MCID: CLB010
MIFTS: 53

Coloboma of Macula

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Coloboma of Macula

MalaCards integrated aliases for Coloboma of Macula:

Name: Coloboma of Macula 56 12 74 52 58
Coloboma 12 25 54 43 15
Congenital Ocular Coloboma 12 25 29 6
Microphthalmia, Isolated, with Coloboma 25 39
Hereditary Macular Coloboma 52 71
Agenesis of Macula 56 52
Uveoretinal Coloboma 25
Macular Coloboma 52
Coloboma of Eye 12
Ocular Coloboma 25

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
coloboma of macula:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:12270
OMIM 56 120300
MeSH 43 D003103
NCIt 49 C98877
SNOMED-CT 67 92828000 93390002
ICD10 32 Q13.0
ICD10 via Orphanet 33 Q14.8
Orphanet 58 ORPHA98945
MedGen 41 C1852767
SNOMED-CT via HPO 68 263681008
UMLS 71 C0009363 C1852767

Summaries for Coloboma of Macula

Genetics Home Reference : 25 Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. Colobomas affecting the iris, which result in a "keyhole" appearance of the pupil, generally do not lead to vision loss. Colobomas involving the retina result in vision loss in specific parts of the visual field. Large retinal colobomas or those affecting the optic nerve can cause low vision, which means vision loss that cannot be completely corrected with glasses or contact lenses. Some people with coloboma also have a condition called microphthalmia. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss. People with coloboma may also have other eye abnormalities, including clouding of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) that can damage the optic nerve, vision problems such as nearsightedness (myopia), involuntary back-and-forth eye movements (nystagmus), or separation of the retina from the back of the eye (retinal detachment). Some individuals have coloboma as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When coloboma occurs by itself, it is described as nonsyndromic or isolated. Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. While these eyelid gaps are also called colobomas, they arise from abnormalities in different structures during early development.

MalaCards based summary : Coloboma of Macula, also known as coloboma, is related to coloboma, ocular, autosomal dominant and coloboma of optic nerve. An important gene associated with Coloboma of Macula is PAX6 (Paired Box 6). Affiliated tissues include eye, retina and brain, and related phenotypes are macular coloboma and cellular

Disease Ontology : 12 An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98945 Definition Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus ). It is usually isolated, but may also be associated with Down syndrome , skeletal or renal disorders. Visit the Orphanet disease page for more resources.

Wikipedia : 74 A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such... more...

More information from OMIM: 120300

Related Diseases for Coloboma of Macula

Diseases related to Coloboma of Macula via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 550, show less)
# Related Disease Score Top Affiliating Genes
1 coloboma, ocular, autosomal dominant 35.6 YAP1 TMEM67 SALL2 RBP4 PAX6 MYH10
2 coloboma of optic nerve 35.3 SALL2 PAX6 PAX2 FZD5 ABCB6
3 papillorenal syndrome 35.0 PAX6 PAX2 CRYAA CHD7
4 microphthalmia 34.9 YAP1 VSX2 VAX2 VAX1 TMEM67 SALL2
5 coloboma of iris 34.8 TMEM67 PAX6
6 coloboma of eye lens 34.6 SALL2 PAX6 FZD5 ABCB6
7 coloboma of eyelid 34.5 SALL2 PAX6 FZD5 ABCB6
8 colobomatous microphthalmia 33.6 VSX2 VAX1 RBP4 PAX6 PAX2 ABCB6
9 aniridia 1 33.4 VSX2 PAX6 PAX2 CYP1B1 CRYAA
10 fryns microphthalmia syndrome 33.2 VSX2 PAX6
11 pathologic nystagmus 31.7 TMEM67 PAX6 CRYAA
12 ptosis 31.7 SNAP25 PAX6 CRYAA CFAP47
13 persistent hyperplastic primary vitreous 31.3 VSX2 PAX6 PAX2 FZD5
14 intraocular pressure quantitative trait locus 31.3 PAX6 CYP1B1 CRYAA
15 lens subluxation 31.3 VSX2 PAX6 CRYAA
16 scleral staphyloma 31.2 PAX2 CRYAA
17 peters-plus syndrome 31.2 VSX2 PAX6 CYP1B1 CRYAA
18 fundus dystrophy 31.2 VSX2 TMEM67 PAX6 CRYAA
19 eye disease 31.0 VSX2 RBP4 PAX6 CYP1B1 CRYAA
20 microphthalmia, isolated 2 30.8 VSX2 PAX6 CYP1B1
21 sclerocornea 30.8 PAX6 CRYAA
22 leukocoria 30.7 VSX2 CRYAA
23 microphthalmia, isolated 3 30.7 VSX2 PAX6
24 phimosis 30.5 CYP1B1 CRYAA
25 coloboma of macula with type b brachydactyly 12.8
26 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.7
27 microphthalmia, isolated, with coloboma 9 12.6
28 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.6
29 coloboma, ocular, autosomal recessive 12.5
30 microphthalmia, isolated, with coloboma 3 12.5
31 microphthalmia, isolated, with coloboma 5 12.5
32 retinochoroidal coloboma 12.5
33 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 12.5
34 nasopalpebral lipoma-coloboma syndrome 12.5
35 microphthalmia, isolated, with coloboma 7 12.5
36 microphthalmia/coloboma and skeletal dysplasia syndrome 12.5
37 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.5
38 microphthalmia, isolated, with coloboma 1 12.5
39 microphthalmia, isolated, with coloboma 6 12.5
40 coloboma of macula and skeletal anomalies 12.4
41 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.4
42 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 12.4
43 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.4
44 microphthalmia, isolated, with coloboma 10 12.4
45 microtia with nasolacrimal duct imperforation and eye coloboma 12.3
46 retinal dystrophy and iris coloboma with or without congenital cataract 12.3
47 microphthalmia, isolated, with coloboma 4 12.2
48 coloboma-obesity-hypogenitalism-mental retardation syndrome 12.2
49 cerebral-cerebellar-coloboma syndrome, x-linked 12.2
50 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness 12.1
51 brachydactyly, coloboma, and anterior segment dysgenesis 12.1
52 obsolete: ocular coloboma 12.1
53 syndromic microphthalmia-anophthalmia-coloboma 12.1
54 coach syndrome 12.1
55 microphthalmia, isolated, with coloboma 2 12.1
56 charge syndrome 12.1
57 microphthalmia, syndromic 9 12.1
58 coloboma of inferior eyelid 12.1
59 coloboma of superior eyelid 12.1
60 syndromic eyelid coloboma 12.1
61 temtamy syndrome 12.1
62 aortic arch interruption, facial palsy, and retinal coloboma 12.0
63 coloboma of optic papilla 12.0
64 coloboma porencephaly hydronephrosis 12.0
65 esophageal atresia coloboma talipes 12.0
66 hypercalcinuria macular coloboma 12.0
67 manitoba oculotrichoanal syndrome 12.0
68 kahrizi syndrome 12.0
69 baraitser-winter syndrome 12.0
70 baraitser-winter syndrome 1 11.9
71 congenital disorder of glycosylation, type iq 11.9
72 abruzzo-erickson syndrome 11.9
73 oculoauricular syndrome 11.7
74 otodental dysplasia 11.6
75 arima syndrome 11.6
76 focal dermal hypoplasia 11.6
77 verheij syndrome 11.6
78 microphthalmia, syndromic 1 11.5
79 treacher collins syndrome 1 11.5
80 renpenning syndrome 1 11.5
81 curry-jones syndrome 11.5
82 yemenite deaf-blind hypopigmentation syndrome 11.5
83 biemond syndrome ii 11.5
84 elsahy-waters syndrome 11.5
85 cavitary optic disc anomalies 11.5
86 pax2-related disorder 11.4
87 hypomagnesemia 5, renal, with or without ocular involvement 11.4
88 wolf-hirschhorn syndrome 11.3
89 cat eye syndrome 11.3
90 joubert syndrome 1 11.3
91 burn-mckeown syndrome 11.3
92 microphthalmia, syndromic 5 11.3
93 loose anagen hair syndrome 11.3
94 goldberg-shprintzen syndrome 11.3
95 branchiooculofacial syndrome 11.3
96 microphthalmia with limb anomalies 11.3
97 donnai-barrow syndrome 11.3
98 kaufman oculocerebrofacial syndrome 11.3
99 leber congenital amaurosis 9 11.3
100 encephalocraniocutaneous lipomatosis 11.3
101 retinitis pigmentosa 84 11.3
102 acrofrontofacionasal dysostosis 11.3
103 oligomeganephronia 11.3
104 axenfeld-rieger syndrome 11.3
105 cataract microcornea syndrome 11.3
106 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.3
107 ritscher-schinzel syndrome 1 11.3
108 postaxial acrofacial dysostosis 11.3
109 frontonasal dysplasia with alar clefts 11.3
110 aicardi syndrome 11.2
111 joubert syndrome 16 11.2
112 acrofacial dysostosis 1, nager type 11.1
113 frontofacionasal dysplasia 11.1
114 treacher collins syndrome 3 11.1
115 treacher collins syndrome 2 11.1
116 hydrocephalus, congenital, 2, with or without brain or eye anomalies 11.1
117 alar cleft, isolated 11.0
118 alsing syndrome 11.0
119 baraitser rodeck garner syndrome 11.0
120 calloso-genital dysplasia 11.0
121 pfeiffer tietze welte syndrome 11.0
122 vagneur triolle ripert syndrome 11.0
123 obsolete: mclain-dekaban syndrome 11.0
124 macular dystrophy, retinal, 1, north carolina type 11.0
125 hypertelorism, teebi type 11.0
126 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.0
127 microspherophakia-metaphyseal dysplasia 11.0
128 steinfeld syndrome 11.0
129 hypomandibular faciocranial dysostosis 11.0
130 orofaciodigital syndrome ix 11.0
131 oculoauriculofrontonasal syndrome 11.0
132 bosma arhinia microphthalmia syndrome 11.0
133 fontaine progeroid syndrome 11.0
134 warsaw breakage syndrome 11.0
135 catel-manzke syndrome 11.0
136 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.0
137 ritscher-schinzel syndrome 11.0
138 cakut 11.0
139 chromosome 17q11.2 deletion syndrome 11.0
140 chromosome 2q24 microdeletion syndrome 11.0
141 fetal thalidomide syndrome 11.0
142 hyperthermia induced defects 11.0
143 syngnathia multiple anomalies 11.0
144 trisomy 3 mosaicism 11.0
145 iris disease 10.8 VSX2 PAX6 CYP1B1 CRYAA
146 juvenile glaucoma 10.8 PAX6 CYP1B1 CRYAA
147 physical disorder 10.8 VAX1 PAX6 CRYAA CHD7
148 congenital ptosis 10.8 PAX6 MYH10 CRYAA
149 townes-brocks syndrome 10.8 SALL2 PAX2 CHD7
150 anterior segment dysgenesis 5 10.8 PAX6 CYP1B1
151 hydrophthalmos 10.7 PAX6 CYP1B1
152 retinal detachment 10.7
153 ablepharon-macrostomia syndrome 10.7 PAX6 CFAP47
154 specific developmental disorder 10.7 SNAP25 CRYAA CFAP47
155 steroid-induced glaucoma 10.6 CYP1B1 CRYAA
156 cataract 10.6
157 axenfeld-rieger syndrome, type 1 10.6 PAX6 CRYAA
158 phacogenic glaucoma 10.4 CYP1B1 CRYAA
159 strabismus 10.4
160 myopia 10.4
161 mechanical strabismus 10.4
162 suppression amblyopia 10.4
163 amblyopia 10.4
164 hypertelorism 10.3
165 branchiootic syndrome 1 10.3
166 renal hypoplasia 10.3
167 axenfeld-rieger syndrome, type 3 10.3 PAX6 CYP1B1
168 microcephaly 10.3
169 cleft palate, isolated 10.3
170 vesicoureteral reflux 1 10.3
171 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
172 hemifacial microsomia 10.3
173 choanal atresia, posterior 10.3
174 alacrima, achalasia, and mental retardation syndrome 10.3
175 lipomatosis, multiple 10.2
176 telecanthus 10.2
177 persistent hyperplastic primary vitreous, autosomal recessive 10.2
178 pleomorphic lipoma 10.2
179 cleft lip 10.2
180 refractive error 10.2
181 optic disc pit 10.2
182 optic nerve hypoplasia, bilateral 10.2
183 chromosomal triplication 10.2
184 attention deficit-hyperactivity disorder 10.2
185 astigmatism 10.2
186 keratopathy 10.2
187 kidney disease 10.2
188 ataxia and polyneuropathy, adult-onset 10.1
189 isolated ectopia lentis 10.1
190 sensorineural hearing loss 10.1
191 neuroretinitis 10.1
192 hypospadias 10.1
193 hydrocephalus 10.1
194 alternating exotropia 10.1
195 exotropia 10.1
196 retinitis 10.1
197 macular holes 10.1
198 toxoplasmosis 10.1
199 craniofacial microsomia 10.1
200 down syndrome 10.1
201 retinitis pigmentosa 10.1
202 retinoschisis 1, x-linked, juvenile 10.1
203 blepharophimosis 10.1
204 orbital cyst 10.1
205 heart septal defect 10.1
206 dysostosis 10.1
207 holoprosencephaly 10.1
208 albinism 10.1
209 hypotonia 10.1
210 cleft lip/palate 10.1
211 vitreoretinopathy 10.1
212 hirschsprung disease 1 10.0
213 marfan syndrome 10.0
214 noonan syndrome 1 10.0
215 retinoblastoma 10.0
216 anus, imperforate 10.0
217 polydactyly 10.0
218 chromosome 16p13.3 deletion syndrome, proximal 10.0
219 macrostomia, isolated 10.0
220 brachydactyly 10.0
221 ventricular septal defect 10.0
222 familial retinoblastoma 10.0
223 end stage renal failure 10.0
224 retinal degeneration 10.0
225 exophthalmos 10.0
226 fatty liver disease 10.0
227 alopecia 10.0
228 47,xyy 10.0
229 pseudo-turner syndrome 10.0
230 inherited retinal disorder 10.0
231 achondroplasia 10.0
232 cone-rod dystrophy 2 10.0
233 frontonasal dysplasia 1 10.0
234 pectus excavatum 10.0
235 septooptic dysplasia 10.0
236 c syndrome 10.0
237 cryptorchidism, unilateral or bilateral 10.0
238 3-methylglutaconic aciduria, type iii 10.0
239 incontinentia pigmenti 10.0
240 striatal degeneration, autosomal dominant 2 10.0
241 exudative vitreoretinopathy 10.0
242 oculocutaneous albinism 10.0
243 scoliosis 10.0
244 anterior segment dysgenesis 10.0
245 hypogonadotropic hypogonadism 10.0
246 keratoconus 10.0
247 corneal edema 10.0
248 lagophthalmos 10.0
249 ectropion 10.0
250 hypogonadism 10.0
251 bardet-biedl syndrome 10.0
252 hemangioma 10.0
253 hypogonadotropism 10.0
254 ocular hypertension 10.0
255 congenital nystagmus 10.0
256 vitreous detachment 10.0
257 cryptophthalmos 10.0
258 facial cleft 10.0
259 microtia 10.0
260 brachydactyly, type b1 9.9
261 epicanthus 9.9
262 keratitis, hereditary 9.9
263 polydactyly, postaxial, type a1 9.9
264 hutchinson-gilford progeria syndrome 9.9
265 renal hypodysplasia/aplasia 1 9.9
266 vitreoretinopathy, neovascular inflammatory 9.9
267 von hippel-lindau syndrome 9.9
268 cerebellar hypoplasia 9.9
269 corneal dystrophy, band-shaped 9.9
270 fraser syndrome 1 9.9
271 dandy-walker syndrome 9.9
272 mowat-wilson syndrome 9.9
273 megalocornea 9.9
274 glaucoma-related pigment dispersion syndrome 9.9
275 microphthalmia, syndromic 6 9.9
276 microvascular complications of diabetes 5 9.9
277 diarrhea 5, with tufting enteropathy, congenital 9.9
278 secretory diarrhea 9.9
279 metabolic acidosis 9.9
280 monocular esotropia 9.9
281 alport syndrome 9.9
282 respiratory failure 9.9
283 patau syndrome 9.9
284 visual epilepsy 9.9
285 anisometropia 9.9
286 nephronophthisis 9.9
287 focal segmental glomerulosclerosis 9.9
288 diarrhea 9.9
289 congenital toxoplasmosis 9.9
290 facial paralysis 9.9
291 ichthyosis 9.9
292 retinal vascular disease 9.9
293 hypertrichosis 9.9
294 bilateral retinoblastoma 9.9
295 situs inversus 9.9
296 chronic kidney disease 9.9
297 chickenpox 9.9
298 scotoma 9.9
299 senile cataract 9.9
300 esotropia 9.9
301 baraitser-winter cerebrofrontofacial syndrome 9.9
302 frem1 autosomal recessive disorders 9.9
303 dwarfism 9.9
304 encephalocele 9.9
305 10q26 deletion syndrome 9.9
306 seizure disorder 9.9
307 ring chromosome 9.9
308 early-onset non-syndromic cataract 9.9
309 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 9.9
310 tietz albinism-deafness syndrome 9.7
311 autoimmune disease 9.7
312 aortic valve disease 1 9.7
313 blepharophimosis, ptosis, and epicanthus inversus 9.7
314 brachydactyly-nystagmus-cerebellar ataxia 9.7
315 klippel-feil syndrome 1, autosomal dominant 9.7
316 syngnathia 9.7
317 cleft soft palate 9.7
318 contractural arachnodactyly, congenital 9.7
319 duane retraction syndrome 1 9.7
320 exostoses, multiple, type i 9.7
321 exudative vitreoretinopathy 1 9.7
322 facial hypertrichosis 9.7
323 fragile site 10q25 9.7
324 immunoglobulin a deficiency 1 9.7
325 gilles de la tourette syndrome 9.7
326 heterochromia iridis 9.7
327 holoprosencephaly 3 9.7
328 opitz gbbb syndrome, type ii 9.7
329 solitary median maxillary central incisor 9.7
330 johnson neuroectodermal syndrome 9.7
331 kabuki syndrome 1 9.7
332 lacrimal duct defect 9.7
333 trichorhinophalangeal syndrome, type ii 9.7
334 laryngomalacia 9.7
335 marshall syndrome 9.7
336 melanoma, uveal 9.7
337 melkersson-rosenthal syndrome 9.7
338 moebius syndrome 9.7
339 neurofibromatosis, type iv, of riccardi 9.7
340 spinocerebellar ataxia 7 9.7
341 osteoporosis 9.7
342 papillomatosis, confluent and reticulated 9.7
343 poland syndrome 9.7
344 polykaryocytosis inducer 9.7
345 dowling-degos disease 1 9.7
346 retinal aplasia 9.7
347 rubinstein-taybi syndrome 1 9.7
348 digeorge syndrome 9.7
349 tracheoesophageal fistula with or without esophageal atresia 9.7
350 trichorhinophalangeal syndrome, type i 9.7
351 varicose veins 9.7
352 velocardiofacial syndrome 9.7
353 vitiligo-associated multiple autoimmune disease susceptibility 6 9.7
354 waardenburg syndrome, type 2a 9.7
355 arthrogryposis, distal, type 2a 9.7
356 widow's peak 9.7
357 microphthalmia, syndromic 3 9.7
358 arachnoid cysts, intracranial 9.7
359 chondrodysplasia punctata syndrome 9.7
360 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
361 constricting bands, congenital 9.7
362 diastrophic dysplasia 9.7
363 duodenal atresia 9.7
364 grouped pigmentation of the retina 9.7
365 holoprosencephaly 1 9.7
366 muscular dystrophy-dystroglycanopathy , type a, 1 9.7
367 hydrolethalus syndrome 1 9.7
368 acrofrontofacionasal dysostosis 2 9.7
369 microphthalmia, isolated 1 9.7
370 moyamoya disease 1 9.7
371 pierre robin syndrome 9.7
372 abnormal hair, joint laxity, and developmental delay 9.7
373 short-rib thoracic dysplasia 6 with or without polydactyly 9.7
374 taurodontism 9.7
375 tay-sachs disease 9.7
376 alopecia, congenital 9.7
377 microphthalmia, syndromic 2 9.7
378 coats disease 9.7
379 hypomelanosis of ito 9.7
380 nance-horan syndrome 9.7
381 opitz-kaveggia syndrome 9.7
382 linear skin defects with multiple congenital anomalies 1 9.7
383 retinitis pigmentosa-deafness syndrome 9.7
384 nanophthalmos 1 9.7
385 orofacial cleft 11 9.7
386 van den ende-gupta syndrome 9.7
387 macular degeneration, age-related, 1 9.7
388 chylothorax, congenital 9.7
389 cataract 9, multiple types 9.7
390 leber congenital amaurosis 3 9.7
391 leber congenital amaurosis 5 9.7
392 phace association 9.7
393 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7
394 cree mental retardation syndrome 9.7
395 angioid streaks 9.7
396 patent ductus arteriosus 1 9.7
397 valproate embryopathy 9.7
398 cataract 21, multiple types 9.7
399 anterior segment dysgenesis 2 9.7
400 cataract 23, multiple types 9.7
401 joubert syndrome 6 9.7
402 deafness, congenital, with inner ear agenesis, microtia, and microdontia 9.7
403 bone mineral density quantitative trait locus 8 9.7
404 ewing sarcoma 9.7
405 chromosome 5q14.3 deletion syndrome, distal 9.7
406 microphthalmia, isolated 4 9.7
407 bone mineral density quantitative trait locus 15 9.7
408 mental retardation, autosomal dominant 20 9.7
409 epileptic encephalopathy, early infantile, 5 9.7
410 microphthalmia, isolated 6 9.7
411 chromosome 13q14 deletion syndrome 9.7
412 baraitser-winter syndrome 2 9.7
413 immunodeficiency 8 9.7
414 microphthalmia, syndromic 12 9.7
415 mandibulofacial dysostosis with alopecia 9.7
416 hydrops, lactic acidosis, and sideroblastic anemia 9.7
417 thauvin-robinet-faivre syndrome 9.7
418 aniridia 2 9.7
419 intellectual developmental disorder with dysmorphic facies and ptosis 9.7
420 alkuraya-kucinskas syndrome 9.7
421 weiss-kruszka syndrome 9.7
422 neurooculocardiogenitourinary syndrome 9.7
423 west syndrome 9.7
424 familial adenomatous polyposis 9.7
425 usher syndrome 9.7
426 periventricular nodular heterotopia 9.7
427 tooth agenesis 9.7
428 primary congenital glaucoma 9.7
429 ocular albinism 9.7
430 autosomal recessive disease 9.7
431 opitz-gbbb syndrome 9.7
432 aphasia 9.7
433 porencephaly 9.7
434 acrofacial dysostosis 9.7
435 chromosomal deletion syndrome 9.7
436 primary autosomal recessive microcephaly 9.7
437 chromosomal disease 9.7
438 stickler syndrome 9.7
439 cytomegalovirus retinitis 9.7
440 x-linked alport syndrome 9.7
441 corneal disease 9.7
442 klippel-feil syndrome 9.7
443 esophageal atresia 9.7
444 meningocele 9.7
445 spastic quadriplegia 9.7
446 hydronephrosis 9.7
447 enophthalmos 9.7
448 trachoma 9.7
449 arteriovenous malformation 9.7
450 megacolon 9.7
451 choroiditis 9.7
452 degenerative myopia 9.7
453 clubfoot 9.7
454 synostosis 9.7
455 neurogenic bladder 9.7
456 graves' disease 9.7
457 entropion 9.7
458 pyloric stenosis 9.7
459 nephrocalcinosis 9.7
460 locked-in syndrome 9.7
461 quadriplegia 9.7
462 uveitis 9.7
463 tuberous sclerosis 9.7
464 osteopetrosis 9.7
465 biliary atresia 9.7
466 mature cataract 9.7
467 leopard syndrome 9.7
468 autosomal dominant cerebellar ataxia 9.7
469 hypothyroidism 9.7
470 leber congenital amaurosis 9.7
471 histoplasmosis 9.7
472 cerebral palsy 9.7
473 ectodermal dysplasia 9.7
474 amelogenesis imperfecta 9.7
475 craniosynostosis 9.7
476 agammaglobulinemia 9.7
477 chondroma 9.7
478 capillary hemangioma 9.7
479 acute pancreatitis 9.7
480 glomerulonephritis 9.7
481 inner ear disease 9.7
482 acute kidney failure 9.7
483 lipomatosis 9.7
484 teratoma 9.7
485 syphilis 9.7
486 systemic scleroderma 9.7
487 orofaciodigital syndrome 9.7
488 hydranencephaly 9.7
489 pancreatitis 9.7
490 hemangioblastoma 9.7
491 retinal disease 9.7
492 lymphopenia 9.7
493 transient hypogammaglobulinemia 9.7
494 severe combined immunodeficiency 9.7
495 combined t cell and b cell immunodeficiency 9.7
496 adenoma 9.7
497 skin tag 9.7
498 t-cell leukemia 9.7
499 corneal ulcer 9.7
500 night blindness 9.7
501 nervous system disease 9.7
502 rubella 9.7
503 chorioretinitis 9.7
504 learning disability 9.7
505 waardenburg's syndrome 9.7
506 diabetes insipidus 9.7
507 intracranial hypertension 9.7
508 congenital syphilis 9.7
509 pafah1b1-associated lissencephaly/subcortical band heterotopia 9.7
510 sox2-related eye disorders 9.7
511 47, xxy 9.7
512 chromosome 4p deletion 9.7
513 chromosome 4q duplication 9.7
514 congenital hydrocephalus 9.7
515 dobrow syndrome 9.7
516 growth hormone deficiency 9.7
517 horseshoe kidney 9.7
518 limb-body wall complex 9.7
519 linear scleroderma 9.7
520 mosaic trisomy 8 9.7
521 muscle eye brain disease 9.7
522 pituitary stalk interruption syndrome 9.7
523 ring chromosome 3 9.7
524 tetraploidy 9.7
525 isolated pierre robin sequence 9.7
526 febrile seizures 9.7
527 pituitary tumors 9.7
528 posttransplant acute limbic encephalitis 9.7
529 limbal stem cell deficiency 9.7
530 cerebral malformation 9.7
531 obsolete: duplication 4q 9.7
532 orofacial clefting syndrome 9.7
533 submucosal cleft palate 9.7
534 isolated aniridia 9.7
535 uniparental disomy of chromosome 15 9.7
536 partial duplication of chromosome 4 9.7
537 isolated klippel-feil syndrome 9.7
538 idiopathic hypercalciuria 9.7
539 combined hamartoma of the retina and retinal pigment epithelium 9.7
540 obsolete: ito hypomelanosis 9.7
541 congenital amyoplasia 9.7
542 renal dysplasia 9.7
543 congenital ectropion uveae 9.7
544 regional odontodysplasia 9.7
545 overgrowth syndrome 9.7
546 alobar holoprosencephaly 9.7
547 juvenile nephronophthisis 9.7
548 lacrimal drainage system anomaly 9.7
549 congenital ectropion 9.7
550 developmental defect of the eye 9.7

Graphical network of the top 20 diseases related to Coloboma of Macula:



Diseases related to Coloboma of Macula

Symptoms & Phenotypes for Coloboma of Macula

Human phenotypes related to Coloboma of Macula:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 macular coloboma 31 HP:0001116

Symptoms via clinical synopsis from OMIM:

56
Eyes:
agenesis of macula
coloboma of macula

Clinical features from OMIM:

120300

MGI Mouse Phenotypes related to Coloboma of Macula:

45 (showing 6, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 ABCB6 CHD7 FZD5 MYH10 PAX2 PAX6
2 mortality/aging MP:0010768 9.97 ABCB6 CHD7 FZD5 MYH10 PAX2 PAX6
3 digestive/alimentary MP:0005381 9.92 CHD7 FZD5 PAX6 RBP4 TMEM67 VAX1
4 embryo MP:0005380 9.91 CHD7 FZD5 MYH10 PAX2 PAX6 SALL2
5 nervous system MP:0003631 9.73 CHD7 FZD5 MYH10 PAX2 PAX6 SALL2
6 vision/eye MP:0005391 9.36 CHD7 CYP1B1 FZD5 MYH10 PAX2 PAX6

Drugs & Therapeutics for Coloboma of Macula

Interventional clinical trials:

(showing 10, show less)
# Name Status NCT ID Phase Drugs
1 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
2 Stentless Endoscopic Transnasal Transseptal Choanoplasty Unknown status NCT03167463
3 Health- and Vision-Related Quality of Life in Children and Young People With Childhood Glaucoma, Childhood Cataract and Congenital Eye Defects Completed NCT02490267
4 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
5 Evaluation and Treatment of Pediatric, Developmental and Genetic Eye Diseases Completed NCT00076271
6 Genetics of Uveal Coloboma Recruiting NCT01778543
7 Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions Recruiting NCT02077894
8 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
9 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847
10 Family Studies of Uveal Coloboma Terminated NCT00368004

Search NIH Clinical Center for Coloboma of Macula

Cochrane evidence based reviews: coloboma

Genetic Tests for Coloboma of Macula

Genetic tests related to Coloboma of Macula:

# Genetic test Affiliating Genes
1 Congenital Ocular Coloboma 29 PAX6

Anatomical Context for Coloboma of Macula

MalaCards organs/tissues related to Coloboma of Macula:

40
Eye, Retina, Brain, Bone, Heart, Kidney, Testes

Publications for Coloboma of Macula

Articles related to Coloboma of Macula:

(showing 2132, show less)
# Title Authors PMID Year
1
Hereditary macular coloboma. 61 56
4992343 1970
2
Bilateral "Macular Coloboma" in Mother and Son. 61 56
19986141 1927
3
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome. 54 61
20186814 2010
4
Cardiac phenotyping in ex vivo murine embryos using microMRI. 61 54
19598179 2009
5
Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. 54 61
19251738 2009
6
Ectopic Pax2 expression in chick ventral optic cup phenocopies loss of Pax2 expression. 61 54
18485342 2008
7
A clinico-genetic study of renal coloboma syndrome in children. 54 61
17541647 2007
8
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. 61 54
17403695 2007
9
Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. 61 54
17269592 2007
10
[Molecular diagnosis of CHARGE syndrom]. 61 54
17280632 2007
11
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. 54 61
16049068 2005
12
Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma. 61 54
12759129 2003
13
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. 61 54
12503095 2003
14
[Renal-coloboma syndrome]. 54 61
12410411 2002
15
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 54 61
11826019 2002
16
Identification of DNA variants in the SNAP-25 gene and linkage study of these polymorphisms and attention-deficit hyperactivity disorder. 54 61
10889551 2000
17
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. 61 54
10587573 2000
18
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. 61 54
10466411 1999
19
The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. 54 61
9783702 1998
20
Effects of PAX2 expression in a human fetal kidney (HEK293) cell line. 61 54
9459485 1998
21
Pax genes and organogenesis. 61 54
9297966 1997
22
Dominant inheritance of optic pits. 61 54
9222245 1997
23
Genomic structure of the human PAX2 gene. 61 54
8661132 1996
24
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP. 61
28820764 2020
25
Aggressive-like behavior and increased glycine transporters in a zebrafish model of CHARGE syndrome. 61
31610215 2020
26
CHARGE syndrome in nine patients from China. 61
31729160 2020
27
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma. 61
31816153 2019
28
Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis. 61
31502381 2019
29
Multicolour imaging in retinochoroidal coloboma. 61
31805602 2019
30
Genetics and functions of the retinoic acid pathway, with special emphasis on the eye. 61
31796115 2019
31
Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. 61
31833191 2019
32
A new mutation in the PAX2 gene in a Papillorenal Syndrome patient. 61
31692565 2019
33
PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome. 61
30472487 2019
34
Occipital teratoma in a neonate with CHARGE syndrome: a case report. 61
31797071 2019
35
Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome. 61
31649160 2019
36
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. 61
31700164 2019
37
Rare otologic presentation of cat eye syndrome. 61
31804144 2019
38
A hybrid coloboma and optic disc pit associated with macular retinoschisis. 61
31684897 2019
39
Case series: Amniotic band sequence with craniofacial abnormalities. 61
31407870 2019
40
Ophthalmic features and management outcomes of 30 children having Goldenhar syndrome. 61
31760545 2019
41
Clinical and histological features and outcomes of upper eyelid colobomas in the Saudi population. 61
31722593 2019
42
A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1. 61
31746431 2019
43
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. 61
31712251 2019
44
Experimental Study of the Tissue Repair of Neo-Esophagus After Esophageal Muscularis Resection. 61
30688693 2019
45
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene. 61
31718390 2019
46
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction. 61
31343737 2019
47
Combination of capsular tension ring and capsular tension segment for the management of lens coloboma >4 clock hours. 61
31546508 2019
48
Optic disc coloboma: Glaucoma imitator. 61
31546544 2019
49
Red reflex test at the maternity hospital: results from a tertiary hospital and variables associated with inconclusive test results. 61
31622568 2019
50
Oculo-skeletal dysplasia in five Labrador Retrievers. 61
31595625 2019
51
Nystagmus associated with macular dysplasia. 61
31566469 2019
52
An update on the genetics of ocular coloboma. 61
31073883 2019
53
[Congenital abnormalities of the optic disc]. 61
30935696 2019
54
A 14q distal chromoanagenesis elucidated by whole genome sequencing. 61
31562959 2019
55
Congenital toxoplasmosis as one phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1). 61
31367689 2019
56
Lateral Canthal Clefts of the Eyelid. 61
30865066 2019
57
A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease. 61
31538321 2019
58
Hyperacute spontaneous closure of a traumatic macular hole in a colobomatous eye. 61
31334384 2019
59
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. 61
31001663 2019
60
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. 61
29464339 2019
61
Looking to the future of zebrafish as a model to understand the genetic basis of eye disease. 61
31422478 2019
62
Genetics of congenital eye malformations: insights from chick experimental embryology. 61
29980841 2019
63
Rare association of juvenile retinoschisis with retinochoroidal coloboma. 61
31401576 2019
64
Unilateral acute hydrops in a child with bilateral microcornea and iridofundal coloboma. 61
31332140 2019
65
Swept-Source OCT Analysis of the Margin of Choroidal Coloboma: New Insights. 61
31678052 2019
66
Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity. 61
30549247 2019
67
Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum. 61
31176769 2019
68
Neglected Congenital Glaucoma With Lens Coloboma. 61
31135584 2019
69
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. 61
31327510 2019
70
Temporal characterization of optic fissure basement membrane composition suggests nidogen may be an initial target of remodeling. 61
31034836 2019
71
A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation. 61
30986449 2019
72
Bilateral optic nerve aplasia with corpus callosum hypogenesis in an otherwise healthy child: Report of a rare case. 61
31238478 2019
73
Aniridia with lenticular and choroidal coloboma. 61
31342778 2019
74
Lacrimal drainage system anomalies in microphthalmia anophthalmia coloboma complex. 61
31267812 2019
75
Zebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development. 61
31037784 2019
76
A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report. 61
31315586 2019
77
Genes and pathways in optic fissure closure. 61
29198497 2019
78
Microcornea, posterior megalolenticonus, persistent fetal vasculature, chorioretinal coloboma (MPPC) syndrome: Case series post vitrectomy. 61
30766938 2019
79
Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion. 61
31162046 2019
80
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders. 61
30653986 2019
81
Ubiquitin-mediated proteasome degradation regulates optic fissure fusion. 61
31189662 2019
82
Cataract surgery outcomes in eyes with chorioretinal coloboma. 61
31030778 2019
83
A rare case of bilateral choroidal coloboma within deep posterior staphyloma associated with macular hole retinal detachment. 61
31007250 2019
84
Retinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease. 61
31007244 2019
85
Multiple muscular abnormalities in a fetal cadaver with CHARGE syndrome. 61
30465074 2019
86
Congenital eye anomalies: More mosaic than thought? 61
30039880 2019
87
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants. 61
31146700 2019
88
Proboscis Lateralis With Heminasal Hypoplasia. 61
31048621 2019
89
Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408. 61
30998249 2019
90
OUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA. 61
29280939 2019
91
Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology. 61
31029096 2019
92
Effective method for reconstruction of remaining lower lip vermilion defect after a mental V-Y advancement flap. 61
31048643 2019
93
Chromodomain Helicase DNA-Binding Protein 7 Is Suppressed in the Perinecrotic/Ischemic Microenvironment and Is a Novel Regulator of Glioblastoma Angiogenesis. 61
30629778 2019
94
Management of median and paramedian craniofacial clefts. 61
30691993 2019
95
Ocular albinism with bilateral ocular coloboma - A rare association. 61
30777963 2019
96
Familial exudative vitreoretinopathy in a patient with choroidal coloboma. 61
30846457 2019
97
Bilateral congenital macular coloboma and cataract: A case report. 61
30882657 2019
98
Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors. 61
30445451 2019
99
RERE-Related Disorders 61
30896913 2019
100
[Clinical and Genetic Characteristics of Ocular Developmental Disorders: MAC-Spectrum, Anterior Segment Dysgenesis]. 61
30736081 2019
101
Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development. 61
29922981 2019
102
Scleral Cyst Associated with Anomalous Tilted Configuration of the Optic Nerve Head: A Case Report. 61
30739279 2019
103
A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay. 61
30943680 2019
104
Visualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis. 61
30985739 2019
105
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. 61
30862798 2019
106
Transcriptome profiling of zebrafish optic fissure fusion. 61
30733552 2019
107
Morphogenesis and axis specification occur in parallel during optic cup and optic fissure formation, differentially modulated by BMP and Wnt. 61
30958096 2019
108
High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism. 61
30733481 2019
109
[Cat-eye syndrome (a psychiatric aspect)]. 61
31851174 2019
110
[Unusual coloboma of the optic disc?] 61
29666920 2019
111
Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum. 61
29753094 2019
112
Corneal Endothelial Cell Density in Uveal Coloboma Associated With Microcornea. 61
30222717 2019
113
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. 61
30711679 2019
114
SOLITARY RETINAL CAPILLARY HEMANGIOMA IN A PATIENT WITH BILATERAL CHORIORETINAL COLOBOMA. 61
28358746 2019
115
Quantitative brain morphological analysis in CHARGE syndrome. 61
31154243 2019
116
Clinical Presentation and Management Outcomes of Coexistent Congenital Glaucoma and Retinopathy of Prematurity. 61
30461550 2019
117
Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog. 61
31415586 2019
118
Prevalence of the optic disc anomalies in the adult South Indian population. 61
29567792 2019
119
A Study on Pattern of Retinal Detachment in Patients with Choroidal Coloboma and Its Outcome after Surgery at a Tertiary Eye Hospital in Nepal. 61
31143474 2019
120
Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits. 61
30695021 2019
121
Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach. 61
31534343 2019
122
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. 61
30513139 2018
123
Optic nerve sheath meningocele associated with coloboma. 61
30270035 2018
124
Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. 61
30055837 2018
125
[Michaelis-Manz syndrome. A case report]. 61
30425385 2018
126
Management of Infantile and Childhood Retinopathies: Optimized Pediatric Pars Plana Vitrectomy Sclerotomy Nomogram. 61
31047195 2018
127
Use of equine amniotic membrane free-island grafts for treatment of a midstromal corneal ulcer and descemetocele in a snow leopard (Panthera uncia). 61
30668260 2018
128
Review of Ocular Manifestations of Joubert Syndrome. 61
30518138 2018
129
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. 61
30548201 2018
130
Fundus examination of 199 851 newborns by digital imaging in China: a multicentre cross-sectional study. 61
30120130 2018
131
Regional Gene Expression Profile Comparison Reveals the Unique Transcriptome of the Optic Fissure. 61
30521666 2018
132
Repair of Bile Duct Injury With Autologous Vein Graft and Stent. 61
29025383 2018
133
Atypical Choroidal Coloboma. 61
31047552 2018
134
Multiloculated Ciliary Body Cysts and Lenticular Coloboma: A Rare Phenotypic Variation Associated With Persistent Fetal Vasculature. 61
30388281 2018
135
Modified everting sutures: an alternative treatment for mild to moderate epiblepharon. 61
29666123 2018
136
Hedgehog signaling regulates cell motility and optic fissure and stalk formation during vertebrate eye morphogenesis. 61
30333214 2018
137
Swept-Source OCT of a Macular Coloboma in NMNAT1-Leber Congenital Amaurosis. 61
31047491 2018
138
Atypical superior iris and retinochoroidal coloboma. 61
30249843 2018
139
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics 61
30384553 2018
140
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). 61
30019980 2018
141
Retinal detachments in the pediatric population. 61
30637194 2018
142
Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation. 61
30067419 2018
143
Emerging trends in childhood blindness and ocular morbidity in India: the Pavagada Pediatric Eye Disease Study 2. 61
29891899 2018
144
Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study. 61
30237300 2018
145
Association of giant retinal tear with iridofundal coloboma in a case of paediatric retinal detachment. 61
30173139 2018
146
Retino-choroidal coloboma: Study through retinography, fluorescence angiography, ecography and optical coherence tomography. 61
29398229 2018
147
Zika and the Eye: Pieces of a Puzzle. 61
29698814 2018
148
A neonate with marked prolonged mixed apneas and CHARGE syndrome: a case report. 61
30176936 2018
149
Multiple ocular developmental defects in four closely related alpacas. 61
29493862 2018
150
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature. 61
30241513 2018
151
Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma-a cross-sectional study. 61
29730053 2018
152
Bilateral congenital macular coloboma: Swept-source optical coherence tomography findings. 61
30430533 2018
153
Bilateral lens coloboma associated with Marfan syndrome. 61
30038176 2018
154
Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease. 61
29781739 2018
155
The cellular bases of choroid fissure formation and closure. 61
29803644 2018
156
Ocular manifestations of PACS1 mutation. 61
29550517 2018
157
Modified sewing machine technique for iridodialysis repair, intraocular lens relocation, iris coloboma repair, Cionni ring fixation, and scleral-fixated intraocular lens. 61
30038167 2018
158
Commentary: Modified sewing machine technique: An innovative method for the management of iridodialysis, iris coloboma, and scleral fixation of intraocular lenses. 61
30038168 2018
159
Temporal Requirement of Mab21l2 During Eye Development in Chick Reveals Stage-Dependent Functions for Retinogenesis. 61
30073347 2018
160
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT. 61
29987673 2018
161
Amniotic Band Syndrome: A Review of 2 Cases. 61
29634607 2018
162
"HOURGLASS COLOBOMA": A CASE REPORT AND REVIEW OF ETIOPATHOGENESIS. 61
30045150 2018
163
SUCCESSFUL SURGICAL OUTCOME OF FULL-THICKNESS MACULAR HOLE WITH CHOROIDAL COLOBOMA. 61
30048407 2018
164
RETINAL DETACHMENT SURGERY IN A PEDIATRIC POPULATION: Visual and Anatomic Outcomes. 61
28858062 2018
165
Compliance between clinical and genetic diagnosis of choroidal hypoplasia in 103 Norwegian Border Collie puppies. 61
29111596 2018
166
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. 61
29498412 2018
167
Intercalary membrane as the inner wall overlying optic and chorio-retinal colobomas. Deep penetration Swept Source-OCT study. 61
29941764 2018
168
Parapapillary Optic Nerve Head Drusen in Leber Congenital Amaurosis. 61
30021046 2018
169
Delleman syndrome: A case report from West Africa - features and the challenges of management. 61
30264772 2018
170
Low-vision aids improve the visual performance of children with bilateral chorioretinal coloboma. 61
29730056 2018
171
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. 61
29617172 2018
172
Clival Malformations in CHARGE Syndrome. 61
29622552 2018
173
SALL2 represses cyclins D1 and E1 expression and restrains G1/S cell cycle transition and cancer-related phenotypes. 61
29689621 2018
174
Bilateral macular coloboma. 61
29773313 2018
175
Optical Coherence Tomography Angiography of Pigmented Paravenous Retinochoroidal Atrophy. 61
29772051 2018
176
Surgical technique for management of isolated lenticular coloboma with high corneal astigmatism. 61
29582820 2018
177
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). 61
29575628 2018
178
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract. 61
29700284 2018
179
RETINAL DETACHMENT AND RETROBULBAR CYSTS IN A LARGE COHORT OF OPTIC NERVE COLOBOMA. 61
28338555 2018
180
Chd7 Is Critical for Early T-Cell Development and Thymus Organogenesis in Zebrafish. 61
29353058 2018
181
Bilateral optic disc pathologies as an accompanying feature of comitant strabismus in children. 61
28233222 2018
182
Goldenhar Syndrome - ophthalmologist's perspective. 61
30206552 2018
183
Atypical Retinal Lamination Pattern Associated with Bilateral Chorioretinal Coloboma. 61
31047595 2018
184
[Association of macular coloboma and Pierre Robin sequence; could it be Stickler syndrome?] 61
29588057 2018
185
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye. 61
29522511 2018
186
Corneal thickness in uveal coloboma with microcornea. 61
29192683 2018
187
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities. 61
29383837 2018
188
[Maculopathy with optic nerve pits : Morphological criteria in SD-OCT]. 61
28405756 2018
189
Genetic Testing in Pediatric Ophthalmology. 61
28971364 2018
190
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities. 61
29556724 2018
191
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center. 61
29112083 2018
192
A complex phenotype in a family with a pathogenic SOX3 missense variant. 61
29175558 2018
193
Metalloproteinase Adamts16 Is Required for Proper Closure of the Optic Fissure. 61
29625437 2018
194
Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation). 61
28702949 2018
195
TGFβ-facilitated optic fissure fusion and the role of bone morphogenetic protein antagonism. 61
29593116 2018
196
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11. 61
29271567 2018
197
[Infrequent mutation in renal-coloboma syndrome: case report and review]. 61
29333833 2018
198
Polypoidal Choroidal Vasculopathy Associated with Optic Disc Coloboma. 61
29643788 2018
199
Serous macular detachment due to nasally located optic disc pit-coloboma. 61
30450323 2018
200
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. 61
30386378 2018
201
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family. 61
29930474 2018
202
[Bilateral iris coloboma]. 61
30123404 2018
203
Oculocutaneous albinism with iridofundal coloboma. 61
29374654 2018
204
North Carolina Macular Dystrophy. 61
30578494 2018
205
[Bilateral chorioretinian colobome: about a case]. 61
30637046 2018
206
New ocular finding in Baraitser-Winter syndrome (BWS). 61
29024830 2018
207
Zika Virus and the Eye. 61
28318359 2018
208
Cell Behaviors during Closure of the Choroid Fissure in the Developing Eye. 61
29515375 2018
209
Ocular and uteroplacental pathology in a macaque pregnancy with congenital Zika virus infection. 61
29381706 2018
210
Outcome of universal newborn eye screening with wide-field digital retinal image acquisition system: a pilot study. 61
28737759 2018
211
Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. 61
29311329 2018
212
Prevalence of Congenital Ocular Anomalies among Children with Genetic Disorders: An Egyptian Study. 61
28991511 2018
213
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. 61
29220674 2017
214
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature. 61
28471317 2017
215
Endoscopic Vitrectomy for Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, Coloboma Syndrome. 61
29157424 2017
216
Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome. 61
29168327 2017
217
Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe. 61
29082627 2017
218
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up. 61
29088501 2017
219
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. 61
28388256 2017
220
CHARGEd with neural crest defects. 61
29082625 2017
221
Coronal clival cleft in CHARGE syndrome. 61
28059674 2017
222
Head and Neck MRI Findings in CHARGE Syndrome. 61
28705814 2017
223
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome. 61
29178447 2017
224
Optic disc coloboma in two nigerian siblings: Case report and review of literature. 61
29303140 2017
225
Three Cases of Associated Persistent Fetal Vasculature and Ocular Coloboma: Posterior Segment Dysgenesis. 61
29156060 2017
226
Dealing a Neonate with CHARGE Syndrome:Anaesthesia perspective of perioperative care. 61
29492094 2017
227
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities. 61
28973288 2017
228
Electrospun collagen/poly(L-lactic acid-co-ε-caprolactone) scaffolds for conjunctival tissue engineering. 61
29104630 2017
229
Congenital anomalies of the optic disc: insights from optical coherence tomography imaging. 61
28817389 2017
230
Ultrasonographic evaluation of transition from normal to ectatic area: A comparison between myopic staphylomata and coloboma. 61
29044079 2017
231
Cataract, strabismus and chorioretinal coloboma in paediatric HIV infection. 61
27956343 2017
232
Coloboma of the Optic Disc and Retina. 61
28353130 2017
233
[Rare causes of childhood leukocoria]. 61
28893456 2017
234
SURGICAL OUTCOMES AND COMPLICATIONS OF RHEGMATOGENOUS RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA: The Results of the KKESH International Collaborative Retina Study Group. 61
28067725 2017
235
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants. 61
28074499 2017
236
Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma. 61
28677725 2017
237
Zebrafish zic2 controls formation of periocular neural crest and choroid fissure morphogenesis. 61
28689736 2017
238
A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies. 61
29260090 2017
239
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. 61
28493397 2017
240
Aborted choroidal coloboma: fundus imaging and optical coherence tomography. 61
28784898 2017
241
Optic disc coloboma with pit treated as glaucoma: diagnostic utility of ultrasound and swept source optical coherence tomography. 61
28830904 2017
242
Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations. 61
28831107 2017
243
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. 61
28125082 2017
244
Choroidal Coloboma Presenting as Leukocoria. 61
28526217 2017
245
Bilateral optic disc coloboma. 61
28824002 2017
246
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadism. 61
28659543 2017
247
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. 61
28860541 2017
248
Complement component C3aR constitutes a novel regulator for chick eye morphogenesis. 61
28576690 2017
249
Suprameatal Cochlear Implantation in a CHARGE Patient With a Novel CHD7 Variant and KALLMANN Syndrome Phenotype: A Case Report. 61
28609304 2017
250
The Transcription Factor Foxg1 Promotes Optic Fissure Closure in the Mouse by Suppressing Wnt8b in the Nasal Optic Stalk. 61
28729440 2017
251
New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders. 61
28801591 2017
252
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. 61
28625504 2017
253
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. 61
27661448 2017
254
[Optic disc pit-associated maculopathy and iris-retinochoroidal-coloboma - a rare combination]. 61
27514522 2017
255
Unilateral optic disc pit associated with orbital cyst in a child. 61
28860922 2017
256
PAX2 is dispensable for in vitro nephron formation from human induced pluripotent stem cells. 61
28674456 2017
257
Developmental SALL2 transcription factor: a new player in cancer. 61
28430874 2017
258
Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings. 61
28496998 2017
259
Bilateral Blebs Secondary to Spontaneous Scleral Perforations. 61
28169918 2017
260
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. 61
28327570 2017
261
Pediatric Choroidal Coloboma with Macular Hole at the Edge of the Coloboma. 61
28433125 2017
262
Management of a Large Frontal Encephalocoele With Supraorbital Bar Remodeling and Advancement. 61
28468209 2017
263
The Association of SNAP25 Gene Polymorphisms in Attention Deficit/Hyperactivity Disorder: a Systematic Review and Meta-Analysis. 61
26941099 2017
264
Resorbable Mesh Cranioplasty Repair of Bilateral Cerebrospinal Fluid Leaks Following Pediatric Simultaneous Bilateral Auditory Brainstem Implant Surgery. 61
28121970 2017
265
Oral features and computerized rehabilitation of a young patient with CHARGE syndrome using minimally invasive long-term interim CAD-CAM restorations. 61
27881329 2017
266
A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome. 61
28461801 2017
267
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. 61
28611549 2017
268
A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. 61
27096712 2017
269
"Phacing" a New Cause of Carotid Artery Dissection. 61
28248915 2017
270
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome. 61
27832265 2017
271
Vitrectomy-assisted phacoemulsification for lenticular coloboma. 61
28366360 2017
272
Association of Pediatric Choroidal Neovascular Membranes at the Temporal Edge of Optic Nerve and Retinochoroidal Coloboma. 61
27793604 2017
273
[Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation]. 61
28173652 2017
274
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome. 61
27868373 2017
275
Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing. 61
26968886 2017
276
Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome. 61
27875026 2017
277
Spontaneous rupture of chorioretinal coloboma in an 8-year-old child is treated by temporal fascia graft. 61
27866070 2017
278
Pendular eyelid flap: a novel technique for the management of extensive congenital upper lid colobomas. 61
27810423 2017
279
A 5-day-old-newborn with a large right upper eyelid coloboma. 61
29162995 2017
280
Evaluations of Corneas in Eyes with Isolated Iris Coloboma. 61
27266586 2017
281
Chorioretinal Coloboma Complications: Retinal Detachment and Choroidal Neovascular Membrane. 61
28299000 2017
282
Upper Eyelid Coloboma Repair Using Accessory Preauricular Cartilage in a Patient With Goldenhar Syndrome: Technique Revisited. 61
25514664 2017
283
[Unilateral macular coloboma: about a case]. 61
29184607 2017
284
Comprehensive First-Line Magnetic Resonance Imaging in Hypertension: Experience From a Single-Center Tertiary Referral Clinic. 61
27759186 2017
285
Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome. 61
27639443 2017
286
Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities. 61
29386872 2017
287
A NEW TECHNIQUE WITH AUTOLOGOUS FIBRIN FOR THE TREATMENT OF PERSISTENT OPTIC PIT MACULOPATHY. 61
26982208 2017
288
Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders. 61
27844144 2017
289
[Analysis of the clinical characteristics of fungus ball sphenoid sinusitis]. 61
29774685 2017
290
Peripapillary retinal splitting visualized on OCT in glaucoma and glaucoma suspect patients. 61
28832670 2017
291
Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region. 61
29046629 2017
292
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. 61
27889061 2016
293
Prophylactic laser photocoagulation of fundal coloboma: does it really help? 61
26821601 2016
294
ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome. 61
27447114 2016
295
Congenital Arhinia: A Rare Case Report and Review of Literature. 61
27833885 2016
296
Hypotonic maculopathy secondary to scleral defect in atypical retinochoroidal coloboma. 61
27445074 2016
297
Atypical chorioretinal coloboma in a Golden Retriever: a retinographic, fluoroangiographic, and optical coherence tomography study. 61
26559650 2016
298
Chorioretinal coloboma in a patient with pancreas divisum: clinical and imaging features. 61
27405286 2016
299
Dose-dependent teratogenicity of the synthetic cannabinoid CP-55,940 in mice. 61
26708672 2016
300
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome. 61
27419834 2016
301
Chromosome 11q13 deletion syndrome. 61
28018436 2016
302
Kaufman Oculocerebrofacial Syndrome 61
27763745 2016
303
Congenital Bilateral Coloboma of Upper Eyelid. 61
29336427 2016
304
Large upper eyelid coloboma repair: a one-stage, one-site technique. 61
27664845 2016
305
Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark. 61
27552085 2016
306
Loss of Axin2 Causes Ocular Defects During Mouse Eye Development. 61
27701636 2016
307
Suggestions for a Guideline for Cochlear Implantation in CHARGE Syndrome. 61
27636388 2016
308
[Clinical study for stroke treated with meridian-collateral diagnosis and therapy by WANG Juyi]. 61
29231519 2016
309
Iris cyst in a child with Aicardi syndrome: a novel association. 61
27320016 2016
310
Utility of optical coherence tomography in a case of bilateral congenital macular coloboma. 61
27853022 2016
311
Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report. 61
27982214 2016
312
Triple Fundal Coloboma: irregular closure of the embryonic cleft in the optic cup. 61
27677577 2016
313
Antivascular Endothelial Growth Factor Monotherapy for Choroidal Neovascularization Associated With Retinochoroidal Coloboma: Case Series. 61
26918902 2016
314
An Unconventional Presentation of Branchio-Oculo-Facial Syndrome. 61
27607113 2016
315
Phacoemulsification with pupilloplasty in a patient with congenital cataract and iris colohoma - case report. 61
29727115 2016
316
A 3-Day-Old Girl Referred From Her Pediatrician for Oral Ulcerations. 61
27507895 2016
317
Complex limbal choristoma in linear nevus sebaceous syndrome managed with scleral grafting. 61
27853026 2016
318
Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts. 61
27321065 2016
319
Rare case of iridofundal coloboma with buried optic nerve head drusen in a paediatric patient. 61
27507692 2016
320
Free tarsomarginal graft for large congenital coloboma repair in patients with Tessier number 10 clefts. 61
27302325 2016
321
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. 61
27139419 2016
322
Burn-McKeown Syndrome 61
27413799 2016
323
A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings. 61
27101753 2016
324
Tetraploid/Diploid Mosaicism in Cultured Genital Skin Fibroblasts: Is It Causally Related to Penoscrotal Hypospadias? 61
27587991 2016
325
Multiple Ocular and Systemic Disorders in Association with Bilateral Duane's Retraction Syndrome. 61
27555711 2016
326
Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion. 61
27125467 2016
327
Prenatal diagnosis of retinal coloboma: interest of the three dimensional ultrasonography. 61
27016092 2016
328
Prevalence of Childhood Blindness and Ocular Morbidity in a Rural Pediatric Population in Southern India: The Pavagada Pediatric Eye Disease Study-1. 61
27142419 2016
329
Bilateral Optic Nerve Coloboma and Macular Schisis in Papillorenal Syndrome. 61
27107352 2016
330
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. 61
26660953 2016
331
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. 61
26842768 2016
332
Ocular Findings in Infants With Microcephaly Associated With Presumed Zika Virus Congenital Infection in Salvador, Brazil. 61
26865554 2016
333
A case of iridofundal coloboma with persistent fetal vasculature and lens subluxation. 61
27009512 2016
334
Retinal ischaemia and delayed fibrovascular proliferation associated with an optic nerve coloboma. 61
26850327 2016
335
Cyclical Spontaneous Resorption of Serous Macular Detachment Associated with Optic Disc Coloboma. 61
27116527 2016
336
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. 61
26130484 2016
337
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. 61
26908622 2016
338
Discrepancy in compliance between the clinical and genetic diagnosis of choroidal hypoplasia in Danish Rough Collies and Shetland Sheepdogs. 61
26732749 2016
339
A case of mild CHARGE syndrome associated with a splice site mutation in CHD7. 61
26921530 2016
340
Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features. 61
26636500 2016
341
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature. 61
26773965 2016
342
State of the Art in Congenital Eyelid Deformity Management. 61
27097135 2016
343
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive. 61
26566716 2016
344
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. 61
26538304 2016
345
Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. 61
26590800 2016
346
Revealing the function of a novel splice-site mutation of CHD7 in CHARGE syndrome. 61
26551301 2016
347
First case of neurofibromatosis type 1 associated with chorioretinal coloboma, optic disc pseudodoubling, and vitiligo: linked pathogenesis? 61
26565699 2016
348
Uveal coloboma: about 3 cases at the University Teaching Hospital, Yaounde, Cameroon. 61
27795796 2016
349
Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye. 61
27099847 2016
350
Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome. 61
28028488 2016
351
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. 61
27804958 2016
352
Macular coloboma. 61
27013835 2016
353
A Case of Uveal Colobomas Showing Marked Left-Right Difference in Diabetic Retinopathy. 61
27099608 2016
354
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. 61
26219881 2016
355
Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2. 61
27226968 2016
356
PNEUMATIC RETINOPEXY FOR THE TREATMENT OF SHALLOW RETINAL DETACHMENT CAUSED BY A RETINAL BREAK IN THE INTERCALARY MEMBRANE OF MACULA SPARING RETINOCHOROIDAL COLOBOMA. 61
26465342 2016
357
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency. 61
27980677 2016
358
The Immune Phenotype of Patients with CHARGE Syndrome. 61
26563674 2016
359
Recurrent duplications of 17q12 associated with variable phenotypes. 61
26420380 2015
360
Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome. 61
26670829 2015
361
Outcome of Capsular Tension Ring (CTR) Implant in Complicated Cataracts. 61
26816928 2015
362
Indications and clinical outcomes of capsular tension ring implantation in phacoemulsification surgery at a tertiary teaching hospital: A review of 4316 cataract surgeries. 61
26597552 2015
363
CHARGE syndrome with oculomotor nerve palsy. 61
26691038 2015
364
Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome. 61
26649128 2015
365
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. 61
26542245 2015
366
Baraitser-Winter Cerebrofrontofacial Syndrome 61
26583190 2015
367
Bilateral isolated lens coloboma associated with bicuspid aortic valve. 61
26677042 2015
368
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #1. 61
26703511 2015
369
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #2. 61
26703512 2015
370
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #3. 61
26703513 2015
371
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #5. 61
26703514 2015
372
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #4. 61
26703515 2015
373
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #6. 61
26703516 2015
374
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #7. 61
26703517 2015
375
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #8. 61
26703518 2015
376
Negative and positive auto-regulation of BMP expression in early eye development. 61
26407529 2015
377
Prenatal diagnosis of Fraser syndrome: a matter of life or death? 61
26552811 2015
378
Achondroplasia and Macular Coloboma. 61
26692730 2015
379
Irido-choroidal coloboma: An atypical presentation? 61
26206507 2015
380
Lens coloboma treated with lens surgery. 61
26420693 2015
381
[Bilateral chorio-retinal coloboma]. 61
26194555 2015
382
Spontaneous resealing of perforated scleral ectasia associated with atypical retinochoroidal coloboma. 61
25800772 2015
383
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon. 61
26334530 2015
384
Intraorbital Cystic Lesions: An Imaging Spectrum. 61
25908230 2015
385
Yap and Taz regulate retinal pigment epithelial cell fate. 61
26209646 2015
386
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation. 61
26116559 2015
387
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 61
26092869 2015
388
Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. 61
25899569 2015
389
EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. 61
26118977 2015
390
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. 61
26279656 2015
391
[Aicardi syndrome with Dandy-Walker type malformation]. 61
26156442 2015
392
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. 61
26056285 2015
393
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. 61
25846562 2015
394
Spectrum of congenital defects of the eye and its adnexia in the pediatric age group; experience at a tertiary facility in Nigeria. 61
24743944 2015
395
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. 61
26046913 2015
396
[Upper eyelid congenital coloboma, aethiology pathogenesis and management]. 61
25864120 2015
397
Syndromic lipomatosis of the head and neck: a review of the literature. 61
25860506 2015
398
Neural crest derivatives in ocular development: discerning the eye of the storm. 61
26043871 2015
399
Clinical and Echographic Features of Retinochoroidal and Optic Nerve Colobomas. 61
26047048 2015
400
2q31.1 microdeletion syndrome: case report and literature review. 61
26185628 2015
401
Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion. 61
26929907 2015
402
Cataract surgery in infants with microphthalmos. 61
25592478 2015
403
Tectonic gene mutations in patients with Joubert syndrome. 61
25118024 2015
404
Familial Disorders of the Optic Disc: Presentation of a Mother and Daughter and Review of the Literature. 61
26327911 2015
405
CRIM1 haploinsufficiency causes defects in eye development in human and mouse. 61
25561690 2015
406
MACULAR COLOBOMA IN A CHILD WITH USHER SYNDROME. 61
26411142 2015
407
Prenatal diagnosis of colobomatous microphthalmos. 61
25942066 2015
408
The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas. 61
25613848 2015
409
Bilateral macular colobomata: Temporal dragging of optic disc. 61
26044479 2015
410
First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family. 61
25555744 2015
411
Long-term outcomes on lens clarity after lens-sparing vitrectomy for retinopathy of prematurity. 61
25600197 2015
412
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 61
25052316 2015
413
Ascher's syndrome: A rare case report. 61
25971175 2015
414
Crystalline coloboma. 61
25443185 2015
415
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. 61
25883924 2015
416
Wnt ligands from the embryonic surface ectoderm regulate 'bimetallic strip' optic cup morphogenesis in mouse. 61
25715397 2015
417
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. 61
24961627 2015
418
Visual impairment and blindness among the students of blind schools in Allahabad and its vicinity: A causal assessment. 61
25971172 2015
419
Sox4 regulates choroid fissure closure by limiting Hedgehog signaling during ocular morphogenesis. 61
25557621 2015
420
Goltz syndrome: a newborn with ectrodactyly and skin lesions. 61
25814752 2015
421
Mosaic chromosome 18q partial deletion syndrome with bilateral full-thickness corneal disease: surgical intervention and histopathology. 61
24024746 2015
422
Eye morphogenesis driven by epithelial flow into the optic cup facilitated by modulation of bone morphogenetic protein. 61
25719386 2015
423
COUP-TFs and eye development. 61
24878540 2015
424
Journey to chew: a case of maxillary duplication and bony syngnathia. 61
25487671 2015
425
Severe psychomotor delay in a severe presentation of cat-eye syndrome. 61
25648072 2015
426
Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature. 61
28503585 2015
427
Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality. 61
25325185 2015
428
Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. 61
25574057 2015
429
Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. 61
25719200 2015
430
Congenital Upper Eyelid Coloboma: Clinical and Surgical Management. 61
26366313 2015
431
Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. 61
26571382 2015
432
Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives. 61
25419956 2015
433
Modified muscle transposition procedure for a case of inferior rectus muscle aplasia. 61
25852539 2015
434
Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis. 61
25451153 2015
435
Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications. 61
24512365 2015
436
Choroid plexus in the eye: a case study. 61
25383853 2015
437
Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome. 61
25553296 2015
438
UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. 61
25287747 2015
439
[About Cryptophthalmos (2nd Czech Study)]. 61
26782916 2015
440
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements. 61
24713661 2015
441
Characteristic of low vision patients attending an eye hospital in eastern region of Nepal. 61
26695603 2015
442
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. 61
25091951 2014
443
Glidescope Video Laryngoscope Use for Tracheal Intubation in a Patient with CHARGE Syndrome. 61
27366450 2014
444
Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes. 61
25148430 2014
445
Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: an Italian experience. 61
25255904 2014
446
CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. 61
25257999 2014
447
Oculoauriculovertebral spectrum with a full range of severe clinical manifestations--case report. 61
22154733 2014
448
Lens coloboma in one eye and ectopia lentis in the other eye of a patient with Marfan syndrome. 61
25498110 2014
449
New insights into the development of infantile intraocular medulloepithelioma. 61
25174896 2014
450
Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome). 61
25421742 2014
451
[Sorsby's macular coloboma: fundus and spectral-domain OCT]. 61
25193475 2014
452
Retinal detachment in the eye with the choroidal coloboma. 61
25731003 2014
453
Evaluation of congenital excavated optic disc anomalies with spectral-domain and swept-source optical coherence tomography. 61
24906342 2014
454
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. 61
25123255 2014
455
Inappropriate p53 activation during development induces features of CHARGE syndrome. 61
25119037 2014
456
Lenticular changes in congenital iridolenticular choroidal coloboma. 61
24997235 2014
457
Role of heparan sulfate proteoglycans in optic disc and stalk morphogenesis. 61
24753163 2014
458
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 61
25077900 2014
459
Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies. 61
24932988 2014
460
Choanal Atresia: Surgical Management by Hegar's Dilators. 61
25032113 2014
461
Baraitser and Winter syndrome with growth hormone deficiency. 61
25624931 2014
462
CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia. 61
24979395 2014
463
An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome. 61
24862881 2014
464
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia. 61
24024553 2014
465
Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. 61
24798461 2014
466
The genetic architecture of microphthalmia, anophthalmia and coloboma. 61
24859618 2014
467
In vitro isolation and cultivation of human chondrocytes for osteoarthritis renovation. 61
24916718 2014
468
Differential responsiveness of distinct retinal domains to Atoh7. 61
25151399 2014
469
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. 61
24737827 2014
470
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. 61
24281366 2014
471
Bilateral optic nerve aplasia: a rare isolated central nervous system anomaly. 61
25100913 2014
472
Reconstruction of a congenital upper eyelid coloboma using a lamellar-based technique. 61
24145908 2014
473
[Routine investigation of foetal eyes--in what way and what for?]. 61
25036808 2014
474
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome. 61
23829326 2014
475
Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis. 61
25010521 2014
476
Teratogenic effect of hydroxyethylrutoside, a flavonoid derivate drug--a population-based case-control study. 61
24087950 2014
477
Goldenhar syndrome - a case report. 61
25178617 2014
478
Vitrectomy treatment of retinal detachments related to choroidal coloboma involving the disk. 61
24509488 2014
479
Intraocular lens implantation for patients with coloboma of the iris. 61
24926350 2014
480
Chorioretinal coloboma in a paediatric population. 61
24675580 2014
481
Effect of long-term GH treatment in a patient with CHARGE association. 61
24890892 2014
482
Delleman (oculocerebrocutaneous) syndrome: case report. 61
25005212 2014
483
Transition in endocrinology: induction of puberty. 61
24836550 2014
484
Cat eye syndrome. 61
24842361 2014
485
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. 61
24664492 2014
486
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 61
24412933 2014
487
Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature. 61
25136230 2014
488
Heminasal agenesis: a reconstructive challenge. 61
24777004 2014
489
Encephalocraniocutaneous lipomatosis: a case report and review of the literature. 61
24881613 2014
490
Fgfr signaling is required as the early eye field forms to promote later patterning and morphogenesis of the eye. 61
24478172 2014
491
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. 61
24504161 2014
492
Ocular coloboma and foetal valproate syndrome: four further cases and a hypothesis for aetiology. 61
24584103 2014
493
Surgical outcomes of isolated lens coloboma with or without cataract among young adults. 61
24767219 2014
494
Successful ABO-incompatible living-donor renal transplant without splenectomy for renal coloboma syndrome: a case report. 61
23902562 2014
495
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay. 61
24458657 2014
496
Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome. 61
24790386 2014
497
Microphthalmia in a case of Edward syndrome. 61
24460468 2014
498
Evidence of association between SNAP25 gene and attention deficit hyperactivity disorder in a Latin American sample. 61
24362847 2014
499
Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling. 61
24568996 2014
500
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. 61
24462371 2014
501
Dealing with congenital hepatic fibrosis? Remember COACH syndrome. 61
26183508 2014
502
Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes. 61
25071724 2014
503
Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation. 61
24783654 2014
504
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 61
24166846 2014
505
Oculo-ectodermal syndrome: A case report and further delineation of the syndrome. 61
25745601 2014
506
Clinical manifestations of congenital aniridia. 61
24369682 2014
507
Severe congenital ocular coloboma. 61
25574330 2014
508
[Coloboma of the upper eyelid]. 61
25374637 2014
509
Optical coherence tomographic findings at the fixation point in a case of bilateral congenital macular coloboma. 61
24899799 2014
510
Is coloboma a feature of fetal valproate syndrome? 61
24263622 2014
511
Choroidal coloboma in a case of tay-sachs disease. 61
25295204 2014
512
Heminasal proboscis, a rare craniofacial cleft. 61
24275777 2014
513
aldh7a1 regulates eye and limb development in zebrafish. 61
25004007 2014
514
Ocular findings in two siblings with Joubert syndrome. 61
24531165 2014
515
Novel Frameshift CHD7 Mutation Related to CHARGE Syndrome. 61
24550764 2014
516
Identification of a novel mutation in the CHD7 gene in a patient with CHARGE syndrome. 61
24578717 2014
517
CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment. 61
24840056 2014
518
Progressing subglottic and tracheobronchial stenosis in a patient with CHARGE syndrome diagnosed in adulthood. 61
26029532 2014
519
Ocular involvement in fetal alcohol spectrum disorder: a review. 61
24502600 2014
520
[Persistence of left superior vena cava associated to esophageal atresia: presentation of 5 cases]. 61
25596396 2014
521
Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. 61
24498303 2014
522
Retrospective study of a series of choanal atresia patients. 61
25992054 2014
523
Systemic diagnostic testing in patients with apparently isolated uveal coloboma. 61
24012100 2013
524
Pattern of blood vessels in eyes with coloboma. 61
24413826 2013
525
[Choroid-retinal coloboma and unusual facial features in a 16-year-old girl]. 61
23996063 2013
526
Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. 61
24177921 2013
527
Iris retractors: the saviours in cataract surgery for cataract in lens coloboma. 61
24347454 2013
528
Ciliary body medulloepithelioma: analysis of 41 cases. 61
23796765 2013
529
[Aicardi syndrome: retrospective study of a series of seven case reports]. 61
24265141 2013
530
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 61
24140112 2013
531
Outcomes of cochlear implantation in children with CHARGE syndrome. 61
24125186 2013
532
Evaluation of congenital optic disc pits and optic disc colobomas by swept-source optical coherence tomography. 61
24168988 2013
533
Ocular phenotype of Fbn2-null mice. 61
24130178 2013
534
Detection of PAX2 deletions and duplications using multiplex ligation-dependent probe amplification. 61
23756089 2013
535
Uveal coloboma. 61
24114131 2013
536
Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature. 61
23928108 2013
537
Outcomes of phacoemulsification in eyes with congenital choroidal coloboma. 61
23740521 2013
538
Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome. 61
23920116 2013
539
Cochlear Implants in Children Diagnosed with CHARGE Syndrome. 61
25992052 2013
540
Coloboma and anorectal malformations: a rare association with important clinical implications. 61
23907175 2013
541
Facial contour deformity correction with microvascular flaps based on the 3-dimentional template and facial moulage. 61
24459343 2013
542
Gene-environment interactions affect long-term depression (LTD) through changes in dopamine receptor affinity in Snap25 deficient mice. 61
23939223 2013
543
CD4+ CD31+ recent thymic emigrants in CHD7 haploinsufficiency (CHARGE syndrome): a case. 61
23747993 2013
544
[Ocular malformation and paediatric retinal detachment]. 61
23986187 2013
545
A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation. 61
27293569 2013
546
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. 61
23794175 2013
547
Prevalence of Oculo-auriculo-vertebral Spectrum in Dermolipoma. 61
23683920 2013
548
Association between graves' disease and renal coloboma syndrome: a case report. 61
23966757 2013
549
[Spontaneous resolution of macular detachment associated with optic disc coloboma]. 61
23768477 2013
550
Deficient FGF signaling causes optic nerve dysgenesis and ocular coloboma. 61
23720040 2013
551
Apoptotic and proliferative defects characterize ocular development in a microphthalmic BMP model. 61
23737474 2013
552
A case report of focal dermal hypoplasia-Goltz syndrome. 61
23984248 2013
553
Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case. 61
23636874 2013
554
Terminal 6p deletion syndrome mimicking CHARGE syndrome: A case report. 61
27625847 2013
555
A Filipino male with encephalocraniocutaneous lipomatosis (Haberland's syndrome). 61
23858340 2013
556
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. 61
23613260 2013
557
Partial tetrasomy 14 associated with multiple malformations. 61
23613323 2013
558
Human facial dysostoses. 61
23565775 2013
559
Potential teratogenicity of methimazole: exposure of zebrafish embryos to methimazole causes similar developmental anomalies to human methimazole embryopathy. 61
23630110 2013
560
More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. 61
23885230 2013
561
Outcome of anesthetic management for children with craniofacial deformities. 61
23461698 2013
562
The cardiac phenotype in patients with a CHD7 mutation. 61
23677905 2013
563
Aniridia associated with lens coloboma and secondary glaucoma treated with transcorneal argon laser ciliary body photocoagulation: a case report. 61
23898292 2013
564
Renal coloboma syndrome associated with double- chambered right ventricle. 61
23443859 2013
565
Iridal coloboma induces dyscoria during miosis in FLS mice. 61
22813095 2013
566
Iris coloboma in one eye and pigment dispersion syndrome in the fellow eye. 61
23704455 2013
567
Spontaneous resolution of macular detachment associated with congenital anomalies of the optic nerve: coloboma and optic disc pit. 61
23623023 2013
568
Surgery for macular holes associated with unusual concomitant pathologies. 61
24082671 2013
569
X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations. 61
22784330 2013
570
Joubert syndrome: the molar tooth sign of the mid-brain. 61
23919210 2013
571
Sma- and Mad-related protein 7 (Smad7) is required for embryonic eye development in the mouse. 61
23426374 2013
572
Bilateral microphthalmos with unilateral superior cyst in a child with autism and CHARGE syndrome. 61
23111569 2013
573
[Ocular coloboma and results of brain MRI: preliminary results]. 61
23177150 2013
574
Amniotic bands as a cause of congenital anterior staphyloma. 61
23150045 2013
575
Cochlear nerve deficiency in children with CHARGE syndrome. 61
22930484 2013
576
Peripheral nonperfusion and tractional retinal detachment associated with congenital optic nerve anomalies. 61
23178156 2013
577
Defective FGF signaling causes coloboma formation and disrupts retinal neurogenesis. 61
23147794 2013
578
[Facial coloboma: report of an exceptional prenatal case and interest of three-dimensional ultrasonography]. 61
22819253 2013
579
Lesions simulating retinoblastoma (pseudoretinoblastoma) in 604 cases: results based on age at presentation. 61
23107579 2013
580
Management of repeated trauma to bone-anchored hearing aids in a paediatric patient. 61
23253569 2013
581
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. 61
22283518 2013
582
Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. 61
22462537 2013
583
A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma. 61
24349436 2013
584
Congenital left upper eyelid coloboma. 61
24000518 2013
585
[Unilateral coloboma of the eye lens: about a case]. 61
24570772 2013
586
Spectral domain optical coherence tomography demonstrates interconnected orbital cyst and chorioretinal coloboma in an adult. 61
25383833 2013
587
Rhegmatogenous retinal detachment and bilateral optic disc coloboma in organoid nevus syndrome. 61
23307223 2013
588
Oculoauriculovertebral spectrum with radial anomaly in child. 61
24479055 2013
589
Unilateral ectopic parotid gland in CHARGE syndrome. 61
23212596 2013
590
Prenatal diagnosis of Goldenhar syndrome with unusual features by 3D ultrasonography. 61
24341148 2013
591
Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26). 61
24032291 2013
592
C-Jun terminal kinases play an important role in regulating embryonic survival and eye development in vertebrates. 61
23116265 2013
593
DNA variation in the SNAP25 gene confers risk to ADHD and is associated with reduced expression in prefrontal cortex. 61
23593184 2013
594
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. 61
23342975 2013
595
Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism. 61
23760293 2013
596
Clinical diagnosis by whole-genome sequencing of a prenatal sample. 61
23215558 2012
597
Assessing pathogenicity for novel mutation/sequence variants: the value of healthy older individuals. 61
22707356 2012
598
CHARGE Association. 61
23565479 2012
599
Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings. 61
22497499 2012
600
CHARGE syndrome: diagnosis and clinical management in the NICU. 61
23187639 2012
601
An ENU mutagenesis screen in zebrafish for visual system mutants identifies a novel splice-acceptor site mutation in patched2 that results in Colobomas. 61
23150614 2012
602
Homozygous null mutation in ODZ3 causes microphthalmia in humans. 61
22766609 2012
603
A wedge-shaped anterior hairline extension associated with a tessier number 10 cleft. 61
23197915 2012
604
Joubert syndrome: report of 11 cases. 61
23692786 2012
605
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation. 61
22660956 2012
606
Oro-facial-digital syndrome type II. 61
23777026 2012
607
Morning glory disc anomaly and optic nerve coloboma. 61
21622684 2012
608
Surgical treatment of upper eyelid coloboma: our experience. 61
23064297 2012
609
Congenital upper eyelid coloboma with ipsilateral eyebrow hypoplasia. 61
23050409 2012
610
Surgical management and scheimpflug analysis of an atypical lens coloboma. 61
23139675 2012
611
A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma. 61
23112755 2012
612
A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. 61
22395867 2012
613
Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review. 61
22486322 2012
614
Abnormal vasculature interferes with optic fissure closure in lmo2 mutant zebrafish embryos. 61
22819672 2012
615
Bilateral maculopathy associated with Pierre Robin sequence. 61
22929457 2012
616
RE: On a retinochoroidal coloboma. 61
22883851 2012
617
[Partial duplication of chromosome 4 in a patient with bilateral ocular coloboma]. 61
22859333 2012
618
Ectopic cerebrospinal-like fluid from retrobulbar cysts as a possible cause of pediatric retinal detachment associated with optic disc coloboma: new implications for management. 61
22893081 2012
619
Graded levels of Pax2a and Pax8 regulate cell differentiation during sensory placode formation. 61
22745314 2012
620
The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline. 61
22658483 2012
621
Alport-like glomerular basement membrane changes with renal-coloboma syndrome. 61
22350371 2012
622
Pneumatic retinopexy for retinal detachment associated with choroidal coloboma. 61
21971731 2012
623
Understanding obstructive sleep apnea in children with CHARGE syndrome. 61
22542139 2012
624
Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family. 61
22517486 2012
625
[Progression of hepatic fibrosis observed by repeated liver biopsies in an adult case of COACH syndrome]. 61
22790627 2012
626
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene. 61
22191992 2012
627
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. 61
22171686 2012
628
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. 61
22429196 2012
629
Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. 61
22581475 2012
630
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly. 61
22581785 2012
631
[Expression of mechano-growth factor and its roles in tissue repairs and regeneration]. 61
22702061 2012
632
Prenatal ultrasonographic detection of ophthalmic diseases. 61
22624614 2012
633
Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development. 61
22357656 2012
634
Survey of microphthalmia in Japan. 61
22358587 2012
635
Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy? 61
22489068 2012
636
Manual small incision cataract surgery for subluxated cataract with lens coloboma. 61
22209392 2012
637
Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. 61
22228100 2012
638
A phenotype map for 14q32.3 terminal deletions. 61
22367666 2012
639
Venous malformations of the temporal bone are a common feature in CHARGE syndrome. 61
22314876 2012
640
Botulinum toxin injections into salivary glands to decrease oral secretions in CHARGE syndrome: prospective case study. 61
22419601 2012
641
Retinal detachment associated with optic disc colobomas and morning glory syndrome. 61
22241012 2012
642
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome. 61
22361651 2012
643
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. 61
22213154 2012
644
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. 61
21554267 2012
645
Ophthalmic features of CHARGE syndrome with CHD7 mutations. 61
22302456 2012
646
Forgotten achievements of Polish retinal research in international ophthalmology. 61
20337600 2012
647
SOX2 hypomorphism disrupts development of the prechordal floor and optic cup. 61
22522080 2012
648
Case study of sequence capture enrichment technology: identification of variation underpinning developmental syndromes in an amniote model. 61
24704915 2012
649
Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management. 61
22054996 2012
650
Treatment of recurrent retinal detachment secondary to optic nerve coloboma with injection of autologous platelet concentrate. 61
22370676 2012
651
Treatment of retinal detachment associated with optic nerve head coloboma. 61
22370657 2012
652
Cataract surgery in eyes with congenital iridolenticular choroidal coloboma. 61
22034540 2012
653
ABCB6 mutations cause ocular coloboma. 61
22226084 2012
654
Congenital isolated bilateral upper lid coloboma. 61
22344023 2012
655
Otx but not Mitf transcription factors are required for zebrafish retinal pigment epithelium development. 61
23139843 2012
656
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. 61
22033296 2012
657
Transscleral drainage of subretinal/suprachoroidal silicone oil. 61
22251847 2012
658
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. 61
22355252 2012
659
Lenticular abnormalities in children. 61
21688762 2012
660
Outcomes of 957 preterm neonatal fundus examinations in a Guangzhou NICU through 2008 to 2011. 61
22937507 2012
661
Rodent models of ADHD. 61
21516392 2012
662
Obstructive Sleep Apnea in a Patient with CHARGE Syndrome. 61
22970397 2012
663
Cadherin-mediated cell adhesion is critical for the closing of the mouse optic fissure. 61
23240058 2012
664
[Goldenhar's syndrome--case report]. 61
22783743 2012
665
Organogenesis of mild ocular coloboma in FLS mice: failure of basement membrane disintegration at optic fissure margins. 61
22182670 2012
666
Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients. 61
21904390 2011
667
Challenges in evaluation, management and outcome of the patients with Treacher Collins Syndrome. 61
22423421 2011
668
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. 61
21901792 2011
669
Renal coloboma syndrome. 61
21654726 2011
670
Optical coherence tomographic features in a case of bilateral macular coloboma with strabismus. 61
22187311 2011
671
Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings. 61
22052712 2011
672
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum. 61
21976454 2011
673
[Skin graft combined with thorax wire fastening for repairing postoperative coloboma After resection of chest back giant nevus]. 61
22229193 2011
674
Initial presentation of a retinochoroidal coloboma in a preterm neonate. 61
21995995 2011
675
Unilateral Peters' anomaly with chorioretinal coloboma in the other eye. 61
21976945 2011
676
Unique phenotype in a patient with CHARGE syndrome. 61
21995344 2011
677
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 61
21856375 2011
678
Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. 61
21951868 2011
679
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. 61
21326282 2011
680
Nasopalpebral lipoma coloboma syndrome. 61
21836344 2011
681
Laterality of brain and ocular lesions in Aicardi syndrome. 61
21824560 2011
682
[The role of Pax2 in regulation of kidney development and kidney disease]. 61
21951793 2011
683
Refractory seizures with global developmental delay: A rare cause. 61
22345997 2011
684
Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids. 61
27678233 2011
685
Inferior ectopic pupil and typical ocular coloboma in RCS rats. 61
22330254 2011
686
One-stage reconstruction technique for large congenital eyelid coloboma. 61
21780928 2011
687
Congenital malformations of the orbit. 61
21807313 2011
688
Retinal abnormalities characteristic of inherited renal disease. 61
21372206 2011
689
Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations. 61
20222886 2011
690
Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. 61
21345085 2011
691
Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome. 61
21766737 2011
692
Analysis of sensory, motor and cognitive functions of the coloboma (C3Sn.Cg-Cm/J) mutant mouse. 61
21507201 2011
693
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. 61
21750680 2011
694
Thirty-Year follow-up of an African American family with macular dystrophy of the retina, locus 1 (North Carolina macular dystrophy). 61
21310494 2011
695
Functional analysis of missense mutations G36A and G51A in PAX6, and PAX6(5a) causing ocular anomalies. 61
21524647 2011
696
The Dkk1 dose is critical for eye development. 61
21539829 2011
697
Two-stage reconstruction for eyelid deformities in partial cryptophthalmos. 61
21747265 2011
698
[Bilateral ciliary zonule defect]. 61
21503820 2011
699
Lens coloboma and associated ocular malformations. 61
21692210 2011
700
Congenital ectropion uveae with iris coloboma and telecanthus. 61
21256075 2011
701
[A case of coloboma of optic nerve in newborn]. 61
21624292 2011
702
Branchiooculofacial Syndrome 61
21634087 2011
703
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. 61
21285886 2011
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CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. 61
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Surgical management of unilateral rhegmatogenous retinal detachment associated with ocular coloboma in a 7-year-old child with Noonan syndrome. 61
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Retinoic acid receptor signaling regulates choroid fissure closure through independent mechanisms in the ventral optic cup and periocular mesenchyme. 61
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Severe visual impairment and blindness in infants: causes and opportunities for control. 61
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Pigmented free-floating vitreous cyst in a patient with high myopia and uveal coloboma simulating choroidal melanoma. 61
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Occurrence and pattern of ocular disease in children with cholestatic disorders. 61
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Choroidal neovascularization associated with coloboma of the choroid: a series of three cases. 61
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Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma. 61
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First case of congenital toxoplasmosis from Nepal. 61
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Fbxl10/Kdm2b deficiency accelerates neural progenitor cell death and leads to exencephaly. 61
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Role of rare cases in deciphering the mechanisms of congenital anomalies: CHARGE syndrome research. 61
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Ocular anomalies in a herd of Exmoor ponies in Canada. 61
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Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. 61
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Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. 61
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The development of recurrent choroidal neovascularization in a patient with choroidal coloboma. 61
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Ocular anatomy and cross-sectional imaging of the eye. 61
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Combined hamartoma of the retina and retinal pigment epithelium associated with optic coloboma. 61
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Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study. 61
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Surgical treatment of an enlarging retinal cyst associated with a choroidal coloboma. 61
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Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma. 61
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[Clinical ocular manifestation of Patau's syndrom (trisomy 13)--own observations]. 61
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Aniridia phenotype and myopia in a turkish boy with a PAX6 gene mutation. 61
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[Cases of congenital eye malformations in children]. 61
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PAX6 gene analysis in irido-fundal coloboma. 61
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Genotype-phenotype analysis of the branchio-oculo-facial syndrome. 61
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Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. 61
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Congenital cystic eye: from prenatal diagnosis to therapeutic management and surgical treatment. 61
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Animal models of attention-deficit/hyperactivity disorder. 61
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The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype. 61
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Intact retinal tissue and retinal pigment epithelium identified within a coloboma by high-speed, ultrahigh-resolution optical coherence tomography. 61
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Pseudoduplication of the optic disk. 61
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Orbital migration of gas in a case of colobomatous microphthalmos. 61
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Overview of animal models of attention deficit hyperactivity disorder (ADHD). 61
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A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 61
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Nuclear fragment drop without posterior capsular tear in a patient with congenital choroidal coloboma. 61
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Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. 61
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Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. 61
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Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome. 61
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Renal malformations associated with mutations of developmental genes: messages from the clinic. 61
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Goltz syndrome (focal dermal hypoplasia) with unilateral ocular, cutaneous and skeletal features: case report. 61
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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. 61
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A case of chorioretinal coloboma in a patient with achondroplasia. 61
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Tissue-limited mosaicism for monosomy 13. 61
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Outcomes of retinal detachment surgery in eyes with chorioretinal coloboma. 61
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Atypical macular coloboma in a patient with adult vitelliform dystrophy. 61
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CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation. 61
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Loss of LMO4 in the retina leads to reduction of GABAergic amacrine cells and functional deficits. 61
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Microcornea, posterior megalolenticonus, persistent fetal vasculature, and coloboma: a new syndrome. 61
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Cochlear Implantation in children with CHARGE syndrome. 61
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Description of the smallest critical region for Dandy-Walker malformation in chromosome 13 in a girl with a cryptic deletion related to t(6;13)(q23;q32). 61
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Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients. 61
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Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. 61
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An emerging phenotype of proximal 11q deletions. 61
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Esophageal stenosis in a child presenting a de novo 7q terminal deletion. 61
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[Aicardi syndrome: a report of four Venezuelan patients]. 61
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Choroidal melanoma in a patient with congenital bilateral chorioretinal coloboma: a case report of an extremely rare association of ocular comorbities. 61
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Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. 61
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Visual electrophysiological findings in CHARGE syndrome with bilateral colobomas: a case report. 61
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Autism spectrum disorders and epigenetics. 61
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miR-204 is required for lens and retinal development via Meis2 targeting. 61
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Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome? 61
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Oral findings in Midline Syndrome: a case report and literature review. 61
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Clinical characteristics of a sample of patients with cat eye syndrome. 61
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Optical coherence tomography after pars plana vitrectomy for retinal detachment related to choroidal coloboma. 61
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Multimodality treatment of a complex cervicocerebral arteriovenous shunt in a patient with CHARGE syndrome: case report. 61
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Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. 61
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Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. 61
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A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia. 61
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Intravitreal bevacizumab in choroidal neovascularization associated with congenital choroidal and optic nerve coloboma in children: long-term improvement in visual acuity. 61
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Intravitreal bevacizumab for choroidal neovascularization associated with a retinochoroidal coloboma. 61
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A male with unilateral microphthalmia reveals a role for TMX3 in eye development. 61
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Recurrent choroidal melanoma after transscleral local resection with diffuse vitreous seeding. 61
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Unilateral situs inversus of optic disc associated with reduced binocularity and stereoacuity resembling monofixation syndrome. 61
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[Fetal ocular anomalies: the advantages of prenatal magnetic resonance imaging]. 61
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Optic disc abnormalities - diagnosis, evolution and influence on visual acuity. 61
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AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis. 61
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Further delineation of the Kapur-Toriello syndrome. 61
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PAX2 mutations in fetal renal hypodysplasia. 61
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Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients. 61
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Ocular findings of oral sildenafil use in term and near-term neonates. 61
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[Frequency and clinical presentation of congenital ocular anomalies in Asturias 1990-2004]. 61
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Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. 61
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Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. 61
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Unilateral Optic Nerve Entrance Coloboma: The Broken Disc Anomaly. 61
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Posterior segment diseases. 61
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Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. 61
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Oral-nasal-ocular cleft: the greatest challenge among the rare clefts. 61
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Peripapillary schisis with serous detachment in advanced glaucoma. 61
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Schmid-Fraccaro syndrome: severe neurologic features. 61
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[CHARGE syndrome]. 61
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Study of smell and reproductive organs in a mouse model for CHARGE syndrome. 61
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Eye morphogenesis and patterning of the optic vesicle. 61
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Management of macular hole with choroidal coloboma. 61
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Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 61
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 61
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Surgical outcome of 21 patients with congenital upper eyelid coloboma. 61
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Spontaneous closure of a posttraumatic scleral fistula in an atypical choroidal coloboma. 61
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Visual function of egyptian children with low vision and the demographic determinants. 61
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A trisomy 13 case with Robertsonian translocation presenting with atypical findings. 61
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Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature. 61
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D2 dopamine receptor subtype-mediated hyperactivity and amphetamine responses in a model of ADHD. 61
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Ranibizumab for coloboma-related choroidal neovascular membrane in a child. 61
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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. 61
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Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators. 61
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Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. 61
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Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. 61
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A case of retinal detachment in colobomatous macrophthalmos with microcornea syndrome. 61
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Collie Eye Anomaly in Switzerland. 61
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A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation. 61
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Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. 61
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Novel SOX2 partner-factor domain mutation in a four-generation family. 61
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Clinical and molecular features of Joubert syndrome and related disorders. 61
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Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. 61
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Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. 61
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Airway management in a patient with Treacher Collins syndrome: A case report. 61
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Serous retinal detachment in Joubert syndrome. 61
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Ocular abnormalities in mice lacking the immunoglobulin superfamily member Cdo. 61
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A case of sebaceous nevus sindrome (Schimmelpen-ning-Feuerstein-Mims syndrome). 61
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An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. 61
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Growth and differ