MCID: CLB010
MIFTS: 54

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 58 12 77 54 60
Coloboma 12 26 56 45 15
Congenital Ocular Coloboma 12 26 30 6
Microphthalmia, Isolated, with Coloboma 26 41
Hereditary Macular Coloboma 54 74
Agenesis of Macula 58 54
Ocular Coloboma 26 38
Uveoretinal Coloboma 26
Macular Coloboma 54
Coloboma of Eye 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
coloboma of macula:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12270
OMIM 58 120300
KEGG 38 H01114
MeSH 45 D003103
NCIt 51 C98877
SNOMED-CT 69 92828000 93390002
ICD10 34 Q13.0
ICD10 via Orphanet 35 Q14.8
Orphanet 60 ORPHA98945
MedGen 43 C1852767
SNOMED-CT via HPO 70 263681008

Summaries for Coloboma of Macula

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98945Disease definitionColoboma 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.

MalaCards based summary : Coloboma of Macula, also known as coloboma, is related to coloboma of optic nerve and coloboma, ocular, autosomal dominant. An important gene associated with Coloboma of Macula is PAX6 (Paired Box 6), and among its related pathways/superpathways is Ectoderm Differentiation. The drugs Ophthalmic Solutions and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related phenotypes are macular coloboma and cardiovascular system

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.

Genetics Home Reference : 26 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.

Wikipedia : 77 A coloboma (from the Greek koloboma, meaning defect) is a hole in one of the structures of the eye, such... more...

Description 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 336, show less)
# Related Disease Score Top Affiliating Genes
1 coloboma of optic nerve 34.4 ABCB6 FZD5 PAX2 PAX6 SALL2
2 coloboma, ocular, autosomal dominant 34.2 ABCB6 CYP1B1 FIBP FZD5 PAX6 RBP4
3 coloboma of iris 34.1 PAX6 TMEM67
4 coloboma of eye lens 33.8 ABCB6 FZD5 PAX6 SALL2
5 coloboma of eyelid 33.7 ABCB6 FZD5 PAX6 SALL2
6 microphthalmia 32.5 ABCB6 MAB21L2 MCOPCB1 PAX2 PAX6 RBP4
7 colobomatous microphthalmia 31.8 ABCB6 MAB21L2 MCOPCB1 MCOPCB2 RBP4
8 coloboma of macula with type b brachydactyly 12.7
9 coloboma, ocular, autosomal recessive 12.4
10 retinochoroidal coloboma 12.4
11 corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia 12.4
12 nasopalpebral lipoma-coloboma syndrome 12.4
13 microphthalmia, isolated, with coloboma 7 12.4
14 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.4
15 coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome 12.4
16 microphthalmia/coloboma and skeletal dysplasia syndrome 12.4
17 papillorenal syndrome 12.3
18 coloboma of macula and skeletal anomalies 12.3
19 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.3
20 microphthalmia, isolated, with coloboma 5 12.3
21 microphthalmia, isolated, with coloboma 6 12.3
22 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.3
23 microphthalmia, isolated, with coloboma 3 12.3
24 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.3
25 microphthalmia, isolated, with coloboma 9 12.3
26 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 12.3
27 microphthalmia, isolated, with coloboma 10 12.3
28 microphthalmia, isolated, with coloboma 1 12.3
29 microtia with nasolacrimal duct imperforation and eye coloboma 12.2
30 retinal dystrophy and iris coloboma with or without congenital cataract 12.2
31 uveal coloboma-cleft lip and palate-intellectual disability 12.1
32 cerebral-cerebellar-coloboma syndrome, x-linked 12.0
33 brachydactyly, coloboma, and anterior segment dysgenesis 12.0
34 microphthalmia, isolated, with coloboma 2 12.0
35 coach syndrome 12.0
36 microphthalmia, isolated, with coloboma 4 11.9
37 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.9
38 coloboma of inferior eyelid 11.9
39 coloboma of superior eyelid 11.9
40 temtamy syndrome 11.9
41 microphthalmia, syndromic 9 11.9
42 aortic arch interruption, facial palsy, and retinal coloboma 11.9
43 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness 11.9
44 microphthalmia/anophthalmia/coloboma spectrum 11.9
45 coloboma of optic papilla 11.9
46 coloboma porencephaly hydronephrosis 11.9
47 esophageal atresia coloboma talipes 11.9
48 hypercalcinuria macular coloboma 11.9
49 short limb dwarf edema iris coloboma 11.9
50 charge syndrome 11.9
51 kahrizi syndrome 11.9
52 baraitser-winter syndrome 1 11.8
53 abruzzo-erickson syndrome 11.8
54 manitoba oculotrichoanal syndrome 11.6
55 oculoauricular syndrome 11.6
56 congenital disorder of glycosylation, type iq 11.5
57 baraitser-winter syndrome 11.5
58 verheij syndrome 11.4
59 biemond syndrome ii 11.4
60 treacher collins syndrome 1 11.3
61 yemenite deaf-blind hypopigmentation syndrome 11.3
62 fryns microphthalmia syndrome 11.3
63 hypomagnesemia 5, renal, with or without ocular involvement 11.2
64 pax2-related disorder 11.2
65 aniridia 1 11.2
66 wolf-hirschhorn syndrome 11.2
67 cat eye syndrome 11.2
68 goldberg-shprintzen syndrome 11.2
69 microphthalmia, syndromic 5 11.2
70 cavitary optic disc anomalies 11.2
71 encephalocraniocutaneous lipomatosis 11.2
72 retinitis pigmentosa 84 11.2
73 otodental dysplasia 11.2
74 frontonasal dysplasia with alar clefts 11.1
75 ritscher-schinzel syndrome 1 11.1
76 curry-jones syndrome 11.1
77 joubert syndrome 16 11.1
78 elsahy-waters syndrome 11.0
79 arima syndrome 11.0
80 joubert syndrome with oculorenal anomalies 11.0
81 frontofacionasal dysplasia 11.0
82 treacher collins syndrome 3 11.0
83 postaxial acrofacial dysostosis 11.0
84 focal dermal hypoplasia 11.0
85 renpenning syndrome 1 11.0
86 microphthalmia, syndromic 1 11.0
87 burn-mckeown syndrome 11.0
88 treacher collins syndrome 2 11.0
89 hydrocephalus, congenital, 2, with or without brain or eye anomalies 11.0
90 alar cleft, isolated 10.9
91 alsing syndrome 10.9
92 baraitser rodeck garner syndrome 10.9
93 calloso-genital dysplasia 10.9
94 pfeiffer tietze welte syndrome 10.9
95 vagneur triolle ripert syndrome 10.9
96 macular dystrophy, retinal, 1, north carolina type 10.9
97 hypertelorism, teebi type 10.9
98 acrofacial dysostosis 1, nager type 10.9
99 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 10.9
100 steinfeld syndrome 10.9
101 microphthalmia with limb anomalies 10.9
102 hypomandibular faciocranial dysostosis 10.9
103 orofaciodigital syndrome ix 10.9
104 aicardi syndrome 10.9
105 brachial amelia, cleft lip, and holoprosencephaly 10.9
106 oculoauriculofrontonasal syndrome 10.9
107 leber congenital amaurosis 9 10.9
108 fontaine progeroid syndrome 10.9
109 warsaw breakage syndrome 10.9
110 catel-manzke syndrome 10.9
111 acrofrontofacionasal dysostosis 10.9
112 ritscher-schinzel syndrome 10.9
113 oligomeganephronia 10.9
114 cataract microcornea syndrome 10.9
115 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 10.9
116 chromosome 17q11.2 deletion syndrome 10.9
117 chromosome 2q24 microdeletion syndrome 10.9
118 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.9
119 fetal thalidomide syndrome 10.9
120 hyperthermia induced defects 10.9
121 syngnathia multiple anomalies 10.9
122 trisomy 3 mosaicism 10.9
123 verloes van maldergem marneffe syndrome 10.9
124 retinal detachment 10.5
125 cataract 10.5
126 anterior segment dysgenesis 5 10.4 CYP1B1 PAX6
127 axenfeld-rieger syndrome, type 3 10.4 CYP1B1 PAX6
128 conjunctival degeneration 10.4 CRYAA PAX6
129 congenital aphakia 10.3 PAX2 PAX6
130 microcephaly 10.2
131 persistent hyperplastic primary vitreous, autosomal recessive 10.2
132 ptosis 10.2
133 iris disease 10.2 CRYAA PAX6
134 hypertelorism 10.1
135 myopia 10.1
136 macular holes 10.1
137 cleft palate, isolated 10.1
138 lipomatosis, multiple 10.1
139 down syndrome 10.1
140 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
141 pleomorphic lipoma 10.1
142 marfan syndrome 10.0
143 retinoblastoma 10.0
144 joubert syndrome 1 10.0
145 isolated ectopia lentis 10.0
146 hypospadias 10.0
147 albinism 10.0
148 frontonasal dysplasia 1 10.0
149 noonan syndrome 1 10.0
150 hemifacial microsomia 10.0
151 optic nerve hypoplasia, bilateral 10.0
152 telecanthus 10.0
153 vesicoureteral reflux 1 10.0
154 peters-plus syndrome 10.0
155 retinitis pigmentosa 10.0
156 leber congenital amaurosis 4 10.0
157 chromosome 16p13.3 deletion syndrome, proximal 10.0
158 macrostomia, isolated 10.0
159 alacrima, achalasia, and mental retardation syndrome 10.0
160 holoprosencephaly 10.0
161 keratoconus 10.0
162 persistent hyperplastic primary vitreous 10.0
163 blepharophimosis 10.0
164 heart disease 10.0
165 retinitis 10.0
166 cleft lip 10.0
167 anterior segment dysgenesis 10.0
168 chromosomal triplication 10.0
169 pseudo-turner syndrome 10.0
170 achondroplasia 9.9
171 hemifacial microsomia with radial defects 9.9
172 hirschsprung disease 1 9.9
173 attention deficit-hyperactivity disorder 9.9
174 hutchinson-gilford progeria syndrome 9.9
175 strabismus 9.9
176 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 9.9
177 retinoschisis 1, x-linked, juvenile 9.9
178 loose anagen hair syndrome 9.9
179 astigmatism 9.9
180 polydactyly 9.9
181 choanal atresia, posterior 9.9
182 diarrhea 8, secretory sodium, congenital 9.9
183 alopecia 9.9
184 hemangioma 9.9
185 leber congenital amaurosis 9.9
186 pol iii-related leukodystrophies 9.9
187 exudative vitreoretinopathy 9.9
188 renal hypoplasia 9.9
189 hypogonadotropic hypogonadism 9.9
190 diarrhea 9.9
191 orbital cyst 9.9
192 melanoma 9.9
193 hypogonadism 9.9
194 dysostosis 9.9
195 hypogonadotropism 9.9
196 retinal degeneration 9.9
197 fundus dystrophy 9.9
198 mechanical strabismus 9.9
199 pathologic nystagmus 9.9
200 craniofacial microsomia 9.9
201 xp22.3 microdeletion syndrome 9.9
202 optic disc pit 9.9
203 tietz albinism-deafness syndrome 9.7
204 aortic valve disease 1 9.7
205 brachydactyly-nystagmus-cerebellar ataxia 9.7
206 syngnathia 9.7
207 arthrogryposis, distal, type 9 9.7
208 exudative vitreoretinopathy 1 9.7
209 johnson neuroectodermal syndrome 9.7
210 kabuki syndrome 1 9.7
211 keratitis, hereditary 9.7
212 laryngomalacia 9.7
213 neurofibromatosis, type i 9.7
214 neurofibromatosis, type iv, of riccardi 9.7
215 osteoporosis 9.7
216 poland syndrome 9.7
217 polydactyly, postaxial, type a1 9.7
218 retinal aplasia 9.7
219 digeorge syndrome 9.7
220 tracheoesophageal fistula with or without esophageal atresia 9.7
221 velocardiofacial syndrome 9.7
222 von hippel-lindau syndrome 9.7
223 waardenburg syndrome, type 2a 9.7
224 arthrogryposis, distal, type 2a 9.7
225 anus, imperforate 9.7
226 chondrodysplasia punctata syndrome 9.7
227 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
228 glaucoma 3, primary congenital, a 9.7
229 grouped pigmentation of the retina 9.7
230 holoprosencephaly 1 9.7
231 megalocornea 9.7
232 moyamoya disease 1 9.7
233 3-methylglutaconic aciduria, type iii 9.7
234 tay-sachs disease 9.7
235 alopecia, congenital 9.7
236 hypomelanosis of ito 9.7
237 retinitis pigmentosa-deafness syndrome 9.7
238 glaucoma-related pigment dispersion syndrome 9.7
239 van den ende-gupta syndrome 9.7
240 chylothorax, congenital 9.7
241 cataract 9, multiple types 9.7
242 salla disease 9.7
243 leber congenital amaurosis 5 9.7
244 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7
245 human immunodeficiency virus type 1 9.7
246 valproate embryopathy 9.7
247 cataract 21, multiple types 9.7
248 joubert syndrome 6 9.7
249 ewing sarcoma 9.7
250 microvascular complications of diabetes 5 9.7
251 epileptic encephalopathy, early infantile, 5 9.7
252 baraitser-winter syndrome 2 9.7
253 mandibulofacial dysostosis with alopecia 9.7
254 thauvin-robinet-faivre syndrome 9.7
255 west syndrome 9.7
256 amelogenesis imperfecta 9.7
257 craniosynostosis 9.7
258 glomerulonephritis 9.7
259 hydrocephalus 9.7
260 limbal stem cell deficiency 9.7
261 osteopetrosis 9.7
262 usher syndrome 9.7
263 brachydactyly 9.7
264 oculocutaneous albinism 9.7
265 ocular albinism 9.7
266 autosomal recessive disease 9.7
267 scoliosis 9.7
268 sclerocornea 9.7
269 porencephaly 9.7
270 acrofacial dysostosis 9.7
271 primary autosomal recessive microcephaly 9.7
272 sensorineural hearing loss 9.7
273 monocular esotropia 9.7
274 suppression amblyopia 9.7
275 amblyopia 9.7
276 esophageal atresia 9.7
277 meningocele 9.7
278 corneal edema 9.7
279 hydronephrosis 9.7
280 arteriovenous malformation 9.7
281 lens subluxation 9.7
282 megacolon 9.7
283 scleral staphyloma 9.7
284 patau syndrome 9.7
285 leukocoria 9.7
286 clubfoot 9.7
287 synostosis 9.7
288 graves' disease 9.7
289 entropion 9.7
290 nephronophthisis 9.7
291 ectropion 9.7
292 ichthyosis 9.7
293 epilepsy 9.7
294 retinal vascular disease 9.7
295 capillary hemangioma 9.7
296 inner ear disease 9.7
297 lipomatosis 9.7
298 teratoma 9.7
299 orofaciodigital syndrome 9.7
300 hydranencephaly 9.7
301 bilateral retinoblastoma 9.7
302 hemangioblastoma 9.7
303 human immunodeficiency virus infectious disease 9.7
304 adenoma 9.7
305 skin tag 9.7
306 situs inversus 9.7
307 chorioretinitis 9.7
308 learning disability 9.7
309 ocular hypertension 9.7
310 exophthalmos 9.7
311 diabetes insipidus 9.7
312 congenital nystagmus 9.7
313 esotropia 9.7
314 alveolar capillary dysplasia 9.7
315 amniotic band syndrome 9.7
316 biemond syndrome 9.7
317 chromosome 4p deletion 9.7
318 congenital hydrocephalus 9.7
319 cryptophthalmos 9.7
320 dandy-walker complex 9.7
321 dobrow syndrome 9.7
322 dwarfism 9.7
323 encephalocele 9.7
324 limb-body wall complex 9.7
325 mosaic trisomy 8 9.7
326 phace syndrome 9.7
327 ring chromosome 3 9.7
328 tetraploidy 9.7
329 cleft lip/palate 9.7
330 idiopathic hypercalciuria 9.7
331 combined hamartoma of the retina and retinal pigment epithelium 9.7
332 congenital ectropion uveae 9.7
333 regional odontodysplasia 9.7
334 microtia 9.7
335 alobar holoprosencephaly 9.7
336 juvenile nephronophthisis 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:

33 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 macular coloboma 33 HP:0001116

Symptoms via clinical synopsis from OMIM:

58
Eyes:
agenesis of macula
coloboma of macula

Clinical features from OMIM:

120300

MGI Mouse Phenotypes related to Coloboma of Macula:

47 (showing 6, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 CHD7 FZD5 MAB21L2 PAX2 PAX6 RBP4
2 mortality/aging MP:0010768 9.97 ABCB6 CHD7 FZD5 MAB21L2 PAX2 PAX6
3 digestive/alimentary MP:0005381 9.92 CHD7 FZD5 PAX6 RBP4 TMEM67 VAX1
4 embryo MP:0005380 9.91 CHD7 FZD5 PAX2 PAX6 SALL2 SNAP25
5 nervous system MP:0003631 9.7 CHD7 FZD5 PAX2 PAX6 SALL2 SNAP25
6 vision/eye MP:0005391 9.32 CHD7 CYP1B1 FZD5 MAB21L2 PAX2 PAX6

Drugs & Therapeutics for Coloboma of Macula

Drugs for Coloboma of Macula (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 1
2 Pharmaceutical Solutions Phase 1

Interventional clinical trials:

(showing 10, show less)
# Name Status NCT ID Phase Drugs
1 Spectral Domain Optical Coherence Tomography Imaging of the Eyes of Neonates Completed NCT01404247 Phase 1
2 Stentless Endoscopic Transnasal Transseptal Choanoplasty Unknown status NCT03167463 Not Applicable
3 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
4 Genetics of Uveal Coloboma Recruiting NCT01778543
5 Family Studies of Uveal Coloboma Terminated NCT00368004
6 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025 Not Applicable
7 Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions Recruiting NCT02077894
8 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
9 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
10 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678

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 30 PAX6

Anatomical Context for Coloboma of Macula

MalaCards organs/tissues related to Coloboma of Macula:

42
Eye, Retina, Brain, Heart, Testes, Skin, Kidney

Publications for Coloboma of Macula

Articles related to Coloboma of Macula:

(showing 690, show less)
# Title Authors Year
1
Ocular albinism with bilateral ocular coloboma - A rare association. ( 30777963 )
2019
2
Bilateral congenital macular coloboma and cataract: A case report. ( 30882657 )
2019
3
Retinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease. ( 31007244 )
2019
4
Familial exudative vitreoretinopathy in a patient with choroidal coloboma. ( 30846457 )
2019
5
Cataract surgery outcomes in eyes with chorioretinal coloboma. ( 31030778 )
2019
6
A rare case of bilateral choroidal coloboma within deep posterior staphyloma associated with macular hole retinal detachment. ( 31007250 )
2019
7
A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation. ( 30986449 )
2019
8
Corneal Endothelial Cell Density in Uveal Coloboma Associated With Microcornea. ( 30222717 )
2019
9
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. ( 30695021 )
2019
10
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. ( 30711679 )
2019
11
Microcornea, posterior megalolenticonus, persistent fetal vasculature, chorioretinal coloboma (MPPC) syndrome: Case series post vitrectomy. ( 30766938 )
2019
12
Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, and Coloboma Syndrome Associated With a New Mutation in ZNF408. ( 30998249 )
2019
13
An update on the genetics of ocular coloboma. ( 31073883 )
2019
14
Oculocutaneous albinism with iridofundal coloboma. ( 29374654 )
2018
15
Surgical technique for management of isolated lenticular coloboma with high corneal astigmatism. ( 29582820 )
2018
16
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family. ( 29930474 )
2018
17
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract. ( 29700284 )
2018
18
Bilateral lens coloboma associated with Marfan syndrome. ( 30038176 )
2018
19
Optic nerve sheath meningocele associated with coloboma. ( 30270035 )
2018
20
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. ( 30513139 )
2018
21
Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma-a cross-sectional study. ( 29730053 )
2018
22
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. ( 29498412 )
2018
23
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion. ( 29617172 )
2018
24
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). ( 29575628 )
2018
25
Atypical superior iris and retinochoroidal coloboma. ( 30249843 )
2018
26
Association of giant retinal tear with iridofundal coloboma in a case of paediatric retinal detachment. ( 30173139 )
2018
27
Serous macular detachment due to nasally located optic disc pit-coloboma. ( 30450323 )
2018
28
Swept-Source OCT of a Macular Coloboma in NMNAT1-Leber Congenital Amaurosis. ( 31047491 )
2018
29
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). ( 28702949 )
2018
30
RETINAL DETACHMENT AND RETROBULBAR CYSTS IN A LARGE COHORT OF OPTIC NERVE COLOBOMA. ( 28338555 )
2018
31
Corneal thickness in uveal coloboma with microcornea. ( 29192683 )
2018
32
Retino-choroidal coloboma: Study through retinography, fluorescence angiography, ecography and optical coherence tomography. ( 29398229 )
2018
33
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye. ( 29522511 )
2018
34
Polypoidal Choroidal Vasculopathy Associated with Optic Disc Coloboma. ( 29643788 )
2018
35
Low-vision aids improve the visual performance of children with bilateral chorioretinal coloboma. ( 29730056 )
2018
36
Bilateral macular coloboma. ( 29773313 )
2018
37
Modified sewing machine technique for iridodialysis repair, intraocular lens relocation, iris coloboma repair, Cionni ring fixation, and scleral-fixated intraocular lens. ( 30038167 )
2018
38
Commentary: Modified sewing machine technique: An innovative method for the management of iridodialysis, iris coloboma, and scleral fixation of intraocular lenses. ( 30038168 )
2018
39
"HOURGLASS COLOBOMA": A CASE REPORT AND REVIEW OF ETIOPATHOGENESIS. ( 30045150 )
2018
40
SUCCESSFUL SURGICAL OUTCOME OF FULL-THICKNESS MACULAR HOLE WITH CHOROIDAL COLOBOMA. ( 30048407 )
2018
41
Multiloculated Ciliary Body Cysts and Lenticular Coloboma: A Rare Phenotypic Variation Associated With Persistent Fetal Vasculature. ( 30388281 )
2018
42
Bilateral congenital macular coloboma: Swept-source optical coherence tomography findings. ( 30430533 )
2018
43
Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors. ( 30445451 )
2018
44
Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity. ( 30549247 )
2018
45
Atypical Choroidal Coloboma. ( 31047552 )
2018
46
Atypical Retinal Lamination Pattern Associated with Bilateral Chorioretinal Coloboma. ( 31047595 )
2018
47
Choroidal Coloboma Presenting as Leukocoria. ( 28526217 )
2017
48
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. ( 27661448 )
2017
49
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. ( 28327570 )
2017
50
Cataract, strabismus and chorioretinal coloboma in paediatric HIV infection. ( 27956343 )
2017
51
OUTCOMES OF VITRECTOMY WITH SILICONE OIL TAMPONADE FOR MANAGEMENT OF RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA. ( 29280939 )
2017
52
Association of Pediatric Choroidal Neovascular Membranes at the Temporal Edge of Optic Nerve and Retinochoroidal Coloboma. ( 27793604 )
2017
53
SOLITARY RETINAL CAPILLARY HEMANGIOMA IN A PATIENT WITH BILATERAL CHORIORETINAL COLOBOMA. ( 28358746 )
2017
54
Evaluations of Corneas in Eyes with Isolated Iris Coloboma. ( 27266586 )
2017
55
Spontaneous rupture of chorioretinal coloboma in an 8-year-old child is treated by temporal fascia graft. ( 27866070 )
2017
56
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants. ( 28074499 )
2017
57
Coloboma of the Optic Disc and Retina. ( 28353130 )
2017
58
Vitrectomy-assisted phacoemulsification for lenticular coloboma. ( 28366360 )
2017
59
Pediatric Choroidal Coloboma with Macular Hole at the Edge of the Coloboma. ( 28433125 )
2017
60
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature. ( 28471317 )
2017
61
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. ( 28493397 )
2017
62
Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma. ( 28677725 )
2017
63
Aborted choroidal coloboma: fundus imaging and optical coherence tomography. ( 28784898 )
2017
64
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP. ( 28820764 )
2017
65
Bilateral optic disc coloboma. ( 28824002 )
2017
66
Optic disc coloboma with pit treated as glaucoma: diagnostic utility of ultrasound and swept source optical coherence tomography. ( 28830904 )
2017
67
Unraveling the genetic cause of a consanguineous family with unilateral coloboma and retinoschisis: expanding the phenotypic variability of RAX mutations. ( 28831107 )
2017
68
SURGICAL OUTCOMES AND COMPLICATIONS OF RHEGMATOGENOUS RETINAL DETACHMENT IN EYES WITH CHORIORETINAL COLOBOMA: The Results of the KKESH International Collaborative Retina Study Group. ( 28067725 )
2017
69
Chorioretinal Coloboma Complications: Retinal Detachment and Choroidal Neovascular Membrane. ( 28299000 )
2017
70
Ultrasonographic evaluation of transition from normal to ectatic area: A comparison between myopic staphylomata and coloboma. ( 29044079 )
2017
71
Three Cases of Associated Persistent Fetal Vasculature and Ocular Coloboma: Posterior Segment Dysgenesis. ( 29156060 )
2017
72
Endoscopic Vitrectomy for Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, Coloboma Syndrome. ( 29157424 )
2017
73
A 5-day-old-newborn with a large right upper eyelid coloboma. ( 29162995 )
2017
74
Optic disc coloboma in two nigerian siblings: Case report and review of literature. ( 29303140 )
2017
75
Upper Eyelid Coloboma Repair Using Accessory Preauricular Cartilage in a Patient With Goldenhar Syndrome: Technique Revisited. ( 25514664 )
2017
76
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. ( 27889061 )
2016
77
Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report. ( 27982214 )
2016
78
Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome. ( 28028488 )
2016
79
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. ( 26130484 )
2016
80
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. ( 26773965 )
2016
81
Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark. ( 27552085 )
2016
82
A case of iridofundal coloboma with persistent fetal vasculature and lens subluxation. ( 27009512 )
2016
83
Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome. ( 27139419 )
2016
84
Bilateral Optic Nerve Coloboma and Macular Schisis in Papillorenal Syndrome. ( 27107352 )
2016
85
Antivascular Endothelial Growth Factor Monotherapy for Choroidal Neovascularization Associated With Retinochoroidal Coloboma: Case Series. ( 26918902 )
2016
86
Hypotonic maculopathy secondary to scleral defect in atypical retinochoroidal coloboma. ( 27445074 )
2016
87
First case of neurofibromatosis type 1 associated with chorioretinal coloboma, optic disc pseudodoubling, and vitiligo: linked pathogenesis? ( 26565699 )
2016
88
Atypical chorioretinal coloboma in a Golden Retriever: a retinographic, fluoroangiographic, and optical coherence tomography study. ( 26559650 )
2016
89
Prenatal diagnosis of retinal coloboma: interest of the three dimensional ultrasonography. ( 27016092 )
2016
90
Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye. ( 27099847 )
2016
91
Cyclical Spontaneous Resorption of Serous Macular Detachment Associated with Optic Disc Coloboma. ( 27116527 )
2016
92
Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion. ( 27125467 )
2016
93
Free tarsomarginal graft for large congenital coloboma repair in patients with Tessier number 10 clefts. ( 27302325 )
2016
94
Chorioretinal coloboma in a patient with pancreas divisum: clinical and imaging features. ( 27405286 )
2016
95
Rare case of iridofundal coloboma with buried optic nerve head drusen in a paediatric patient. ( 27507692 )
2016
96
Large upper eyelid coloboma repair: a one-stage, one-site technique. ( 27664845 )
2016
97
Triple Fundal Coloboma: irregular closure of the embryonic cleft in the optic cup. ( 27677577 )
2016
98
Uveal coloboma: about 3 cases at the University Teaching Hospital, Yaounde, Cameroon. ( 27795796 )
2016
99
Utility of optical coherence tomography in a case of bilateral congenital macular coloboma. ( 27853022 )
2016
100
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency. ( 27980677 )
2016
101
PNEUMATIC RETINOPEXY FOR THE TREATMENT OF SHALLOW RETINAL DETACHMENT CAUSED BY A RETINAL BREAK IN THE INTERCALARY MEMBRANE OF MACULA SPARING RETINOCHOROIDAL COLOBOMA. ( 26465342 )
2016
102
Congenital Bilateral Coloboma of Upper Eyelid. ( 29336427 )
2016
103
Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features. ( 26636500 )
2016
104
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. ( 26660953 )
2016
105
Prophylactic laser photocoagulation of fundal coloboma: does it really help? ( 26821601 )
2016
106
Retinal ischaemia and delayed fibrovascular proliferation associated with an optic nerve coloboma. ( 26850327 )
2016
107
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. ( 26908622 )
2016
108
Macular coloboma. ( 27013835 )
2016
109
Achondroplasia and Macular Coloboma. ( 26692730 )
2015
110
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. ( 26046913 )
2015
111
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #8. ( 26703518 )
2015
112
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #7. ( 26703517 )
2015
113
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #6. ( 26703516 )
2015
114
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #4. ( 26703515 )
2015
115
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #5. ( 26703514 )
2015
116
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #3. ( 26703513 )
2015
117
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #2. ( 26703512 )
2015
118
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #1. ( 26703511 )
2015
119
Spontaneous resealing of perforated scleral ectasia associated with atypical retinochoroidal coloboma. ( 25800772 )
2015
120
Bilateral isolated lens coloboma associated with bicuspid aortic valve. ( 26677042 )
2015
121
MACULAR COLOBOMA IN A CHILD WITH USHER SYNDROME. ( 26411142 )
2015
122
Congenital upper eyelid coloboma: embryologic, nomenclatorial, nosologic, etiologic, pathogenetic, epidemiologic, clinical, and management perspectives. ( 25419956 )
2015
123
Crystalline coloboma. ( 25443185 )
2015
124
Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. ( 25719200 )
2015
125
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. ( 26056285 )
2015
126
Irido-choroidal coloboma: An atypical presentation? ( 26206507 )
2015
127
Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. ( 26279656 )
2015
128
Congenital Upper Eyelid Coloboma: Clinical and Surgical Management. ( 26366313 )
2015
129
Lens coloboma treated with lens surgery. ( 26420693 )
2015
130
Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome. ( 26571382 )
2015
131
Lens coloboma in one eye and ectopia lentis in the other eye of a patient with Marfan syndrome. ( 25498110 )
2014
132
Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling. ( 24568996 )
2014
133
The genetic architecture of microphthalmia, anophthalmia and coloboma. ( 24859618 )
2014
134
Choroidal coloboma in a case of tay-sachs disease. ( 25295204 )
2014
135
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. ( 24737827 )
2014
136
Retinal detachment in the eye with the choroidal coloboma. ( 25731003 )
2014
137
Successful ABO-incompatible living-donor renal transplant without splenectomy for renal coloboma syndrome: a case report. ( 23902562 )
2014
138
Reconstruction of a congenital upper eyelid coloboma using a lamellar-based technique. ( 24145908 )
2014
139
Is coloboma a feature of fetal valproate syndrome? ( 24263622 )
2014
140
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. ( 24412933 )
2014
141
Vitrectomy treatment of retinal detachments related to choroidal coloboma involving the disk. ( 24509488 )
2014
142
Ocular coloboma and foetal valproate syndrome: four further cases and a hypothesis for aetiology. ( 24584103 )
2014
143
Chorioretinal coloboma in a paediatric population. ( 24675580 )
2014
144
Surgical outcomes of isolated lens coloboma with or without cataract among young adults. ( 24767219 )
2014
145
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. ( 24798461 )
2014
146
Optical coherence tomographic findings at the fixation point in a case of bilateral congenital macular coloboma. ( 24899799 )
2014
147
Intraocular lens implantation for patients with coloboma of the iris. ( 24926350 )
2014
148
Lenticular changes in congenital iridolenticular choroidal coloboma. ( 24997235 )
2014
149
Severe congenital ocular coloboma. ( 25574330 )
2014
150
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. ( 24462371 )
2014
151
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. ( 23613260 )
2013
152
Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum. ( 24177921 )
2013
153
Association between graves' disease and renal coloboma syndrome: a case report. ( 23966757 )
2013
154
Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case. ( 23636874 )
2013
155
Spontaneous resolution of macular detachment associated with congenital anomalies of the optic nerve: coloboma and optic disc pit. ( 23623023 )
2013
156
Spectral domain optical coherence tomography demonstrates interconnected orbital cyst and chorioretinal coloboma in an adult. ( 25383833 )
2013
157
Rhegmatogenous retinal detachment and bilateral optic disc coloboma in organoid nevus syndrome. ( 23307223 )
2013
158
Aniridia associated with lens coloboma and secondary glaucoma treated with transcorneal argon laser ciliary body photocoagulation: a case report. ( 23898292 )
2013
159
Iridal coloboma induces dyscoria during miosis in FLS mice. ( 22813095 )
2013
160
Defective FGF signaling causes coloboma formation and disrupts retinal neurogenesis. ( 23147794 )
2013
161
Renal coloboma syndrome associated with double- chambered right ventricle. ( 23443859 )
2013
162
Iris coloboma in one eye and pigment dispersion syndrome in the fellow eye. ( 23704455 )
2013
163
Deficient FGF signaling causes optic nerve dysgenesis and ocular coloboma. ( 23720040 )
2013
164
Outcomes of phacoemulsification in eyes with congenital choroidal coloboma. ( 23740521 )
2013
165
Coloboma and anorectal malformations: a rare association with important clinical implications. ( 23907175 )
2013
166
Congenital left upper eyelid coloboma. ( 24000518 )
2013
167
Systemic diagnostic testing in patients with apparently isolated uveal coloboma. ( 24012100 )
2013
168
Uveal coloboma. ( 24114131 )
2013
169
Iris retractors: the saviours in cataract surgery for cataract in lens coloboma. ( 24347454 )
2013
170
A large novel deletion downstream of PAX6 gene in a Chinese family with ocular coloboma. ( 24349436 )
2013
171
Pattern of blood vessels in eyes with coloboma. ( 24413826 )
2013
172
A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation. ( 27293569 )
2013
173
A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma. ( 23112755 )
2012
174
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. ( 22171686 )
2012
175
Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. ( 22228100 )
2012
176
Ectopic cerebrospinal-like fluid from retrobulbar cysts as a possible cause of pediatric retinal detachment associated with optic disc coloboma: new implications for management. ( 22893081 )
2012
177
RE: On a retinochoroidal coloboma. ( 22883851 )
2012
178
Pneumatic retinopexy for retinal detachment associated with choroidal coloboma. ( 21971731 )
2012
179
Treatment of recurrent retinal detachment secondary to optic nerve coloboma with injection of autologous platelet concentrate. ( 22370676 )
2012
180
Treatment of retinal detachment associated with optic nerve head coloboma. ( 22370657 )
2012
181
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation. ( 22429196 )
2012
182
Morning glory disc anomaly and optic nerve coloboma. ( 21622684 )
2012
183
Cataract surgery in eyes with congenital iridolenticular choroidal coloboma. ( 22034540 )
2012
184
Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management. ( 22054996 )
2012
185
Organogenesis of mild ocular coloboma in FLS mice: failure of basement membrane disintegration at optic fissure margins. ( 22182670 )
2012
186
Manual small incision cataract surgery for subluxated cataract with lens coloboma. ( 22209392 )
2012
187
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. ( 22213154 )
2012
188
ABCB6 mutations cause ocular coloboma. ( 22226084 )
2012
189
Congenital isolated bilateral upper lid coloboma. ( 22344023 )
2012
190
Alport-like glomerular basement membrane changes with renal-coloboma syndrome. ( 22350371 )
2012
191
A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome. ( 22361651 )
2012
192
Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings. ( 22497499 )
2012
193
Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. ( 22581475 )
2012
194
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation. ( 22660956 )
2012
195
Congenital upper eyelid coloboma with ipsilateral eyebrow hypoplasia. ( 23050409 )
2012
196
Surgical treatment of upper eyelid coloboma: our experience. ( 23064297 )
2012
197
Surgical management and scheimpflug analysis of an atypical lens coloboma. ( 23139675 )
2012
198
Combined hamartoma of the retina and retinal pigment epithelium associated with optic coloboma. ( 21468345 )
2011
199
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. ( 21285886 )
2011
200
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. ( 21901792 )
2011
201
Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma. ( 20850526 )
2011
202
Congenital ectropion uveae with iris coloboma and telecanthus. ( 21256075 )
2011
203
Pigmented free-floating vitreous cyst in a patient with high myopia and uveal coloboma simulating choroidal melanoma. ( 21485975 )
2011
204
Nasopalpebral lipoma coloboma syndrome. ( 21836344 )
2011
205
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome. ( 21326282 )
2011
206
Initial presentation of a retinochoroidal coloboma in a preterm neonate. ( 21995995 )
2011
207
Optical coherence tomographic features in a case of bilateral macular coloboma with strabismus. ( 22187311 )
2011
208
Surgical management of unilateral rhegmatogenous retinal detachment associated with ocular coloboma in a 7-year-old child with Noonan syndrome. ( 22696753 )
2011
209
Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk. ( 20574025 )
2011
210
Intact retinal tissue and retinal pigment epithelium identified within a coloboma by high-speed, ultrahigh-resolution optical coherence tomography. ( 21218127 )
2011
211
Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study. ( 21220631 )
2011
212
Preterm diagnosis of choristoma and choroidal coloboma in Goldenhar's syndrome. ( 21345085 )
2011
213
Choroidal neovascularization associated with coloboma of the choroid: a series of three cases. ( 21350286 )
2011
214
The development of recurrent choroidal neovascularization in a patient with choroidal coloboma. ( 21350699 )
2011
215
Analysis of sensory, motor and cognitive functions of the coloboma (C3Sn.Cg-Cm/J) mutant mouse. ( 21507201 )
2011
216
Renal coloboma syndrome. ( 21654726 )
2011
217
PAX6 gene analysis in irido-fundal coloboma. ( 21655361 )
2011
218
Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma. ( 21677791 )
2011
219
Lens coloboma and associated ocular malformations. ( 21692210 )
2011
220
Intraoperative OCT of bilateral macular coloboma in a child with Down syndrome. ( 21766737 )
2011
221
One-stage reconstruction technique for large congenital eyelid coloboma. ( 21780928 )
2011
222
Unilateral Peters' anomaly with chorioretinal coloboma in the other eye. ( 21976945 )
2011
223
Inferior ectopic pupil and typical ocular coloboma in RCS rats. ( 22330254 )
2011
224
Surgical treatment of an enlarging retinal cyst associated with a choroidal coloboma. ( 25390161 )
2011
225
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. ( 21956720 )
2011
226
A case of chorioretinal coloboma in a patient with achondroplasia. ( 21052511 )
2010
227
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? ( 20583178 )
2010
228
Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. ( 21082658 )
2010
229
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. ( 20494911 )
2010
230
Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma. ( 20664696 )
2010
231
Intravitreal bevacizumab for choroidal neovascularization associated with a retinochoroidal coloboma. ( 19713977 )
2010
232
Optical coherence tomography after pars plana vitrectomy for retinal detachment related to choroidal coloboma. ( 20351619 )
2010
233
Outcomes of retinal detachment surgery in eyes with chorioretinal coloboma. ( 22737368 )
2010
234
Unilateral Optic Nerve Entrance Coloboma: The Broken Disc Anomaly. ( 20337276 )
2010
235
Microcornea, posterior megalolenticonus, persistent fetal vasculature, and coloboma: a new syndrome. ( 20417569 )
2010
236
Intravitreal bevacizumab in choroidal neovascularization associated with congenital choroidal and optic nerve coloboma in children: long-term improvement in visual acuity. ( 20603066 )
2010
237
Atypical macular coloboma in a patient with adult vitelliform dystrophy. ( 20648068 )
2010
238
Nuclear fragment drop without posterior capsular tear in a patient with congenital choroidal coloboma. ( 20856269 )
2010
239
Choroidal melanoma in a patient with congenital bilateral chorioretinal coloboma: a case report of an extremely rare association of ocular comorbities. ( 21225135 )
2010
240
Surgical outcome of 21 patients with congenital upper eyelid coloboma. ( 22553521 )
2010
241
Management of macular hole with choroidal coloboma. ( 25390128 )
2010
242
Spontaneous closure of a posttraumatic scleral fistula in an atypical choroidal coloboma. ( 25390673 )
2010
243
Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities. ( 19339880 )
2009
244
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. ( 19004499 )
2009
245
Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. ( 19158959 )
2009
246
Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. ( 20057906 )
2009
247
A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature. ( 19452620 )
2009
248
Bilateral aniridia lenticular coloboma and snowflake retinal degeneration. ( 19205498 )
2009
249
Photorefractive keratectomy in iris and choroidal coloboma using Pulzar Z1 solid-state technology from Customvis, Australia. ( 18654605 )
2009
250
An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. ( 18781183 )
2009
251
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. ( 19291776 )
2009
252
Retinal coloboma: prenatal diagnosis using a new technique, the 'virtual fetal eyeground'. ( 19308931 )
2009
253
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features. ( 19403480 )
2009
254
A case of coloboma in a newborn to a woman taking mycophenolate mofetil in pregnancy after kidney transplantation. ( 19460573 )
2009
255
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. ( 19464398 )
2009
256
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder. ( 19876902 )
2009
257
Coloboma and CHARGE association in Puerto Rico. ( 19954100 )
2009
258
A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation. ( 19954729 )
2009
259
Ranibizumab for coloboma-related choroidal neovascular membrane in a child. ( 20006832 )
2009
260
Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome. ( 18203172 )
2008
261
Prenatal growth retardation, microcephaly, and eye coloboma in infant with multiple congenital anomalies: further delineation of presumed new dysmorphic syndrome. ( 18232021 )
2008
262
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. ( 18781617 )
2008
263
Spontaneous scleral rupture adjacent to retinochoroidal coloboma. ( 25390595 )
2008
264
Prenatal magnetic resonance imaging of optic nerve head coloboma. ( 18264951 )
2008
265
Novel SOX2 mutation associated with ocular coloboma in a Chinese family. ( 18474784 )
2008
266
Moyamoya syndrome associated with optic nerve coloboma and mental retardation. ( 18818492 )
2008
267
Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes. ( 18985738 )
2008
268
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. ( 17296897 )
2007
269
Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia. ( 17564942 )
2007
270
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. ( 17656375 )
2007
271
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. ( 17403695 )
2007
272
Retinal detachment in a patient with microphthalmos and choroidal coloboma. ( 18063520 )
2007
273
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. ( 17632789 )
2007
274
Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma. ( 17189899 )
2007
275
Lens coloboma associated with a ciliary body cyst. ( 18161620 )
2007
276
Optical coherence tomographic features of unilateral macular coloboma. ( 17595493 )
2007
277
Tarsomarginal graft in upper eyelid coloboma repair. ( 17644442 )
2007
278
Optical coherence tomographic finding in a case of macular coloboma. ( 17804926 )
2007
279
Congenital isolate and total optic disc coloboma: case report and review of the literature. ( 17914211 )
2007
280
Bilateral asymmetrical isolated lens coloboma with persistent pupillary membrane. ( 18053923 )
2007
281
Choroidal coloboma. ( 18054659 )
2007
282
A clinico-genetic study of renal coloboma syndrome in children. ( 17541647 )
2007
283
Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype. ( 17269592 )
2007
284
Abnormal latent inhibition and impulsivity in coloboma mice, a model of ADHD. ( 17064920 )
2007
285
Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature. ( 17050282 )
2006
286
A newly established mutant strain with mild-type ocular coloboma (retinochoroidal coloboma without microphthalmia) in albino mice. ( 16596662 )
2006
287
Choroidal neovascularization in retinochoroidal coloboma: thermal laser treatment achieves long-term stabilization of visual acuity. ( 16151482 )
2006
288
Long-term anatomical and visual outcome of vitreous surgery for retinal detachment with choroidal coloboma. ( 16770023 )
2006
289
A modified iris repair technique and capsular tension ring insertion in a patient with coloboma with cataracts. ( 17302213 )
2006
290
Surgical technique for congenital iris coloboma repair. ( 17081895 )
2006
291
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism. ( 17050287 )
2006
292
Uveal coloboma: clinical and basic science update. ( 16932062 )
2006
293
The alpha(2C)-adrenergic receptor mediates hyperactivity of coloboma mice, a model of attention deficit hyperactivity disorder. ( 16839770 )
2006
294
Modified flexible iris retractor to retract superior iris and support inferior capsule in eyes with iris coloboma and inferior zonular deficiency. ( 16765784 )
2006
295
Increased corneal thickness in patients with ocular coloboma. ( 16678756 )
2006
296
Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. ( 16082399 )
2006
297
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? ( 15800906 )
2005
298
Subretinal neovascularization associated with retinochoroidal coloboma. ( 16329073 )
2005
299
Dynamic atypical optic nerve coloboma associated with transient macular detachment. ( 17057795 )
2005
300
Dynamic atypical optic nerve coloboma associated with transient macular detachment. ( 16344452 )
2005
301
Iridic and retinal coloboma associated with prenatal methimazole exposure. ( 16278885 )
2005
302
Anterior coloboma with macrophthalmos and cyst: MR findings. ( 16274898 )
2005
303
Double optic discs, optic disc coloboma, and pit: spectrum of hybrid disc anomalies in a single eye. ( 16219745 )
2005
304
Isolated bilateral upper lid coloboma--a case report. ( 16083251 )
2005
305
A population-based case-control study of isolated ocular coloboma. ( 16036478 )
2005
306
Surgical approach in a rare case of coloboma-choristoma. ( 15925349 )
2005
307
Optic disc duplication or coloboma? ( 15615741 )
2005
308
Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias. ( 15365455 )
2004
309
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. ( 15505031 )
2004
310
An optic nerve hypoplasia and coloboma in a patient with hemifacial microsomia. ( 15305536 )
2004
311
Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis. ( 15621880 )
2004
312
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. ( 15492745 )
2004
313
Spontaneous resolution of optic nerve coloboma-associated retinal detachment. ( 15609521 )
2004
314
Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case. ( 15030910 )
2004
315
Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa. ( 15069441 )
2004
316
Bilateral congenital macular coloboma in a boy with Down syndrome. ( 15638109 )
2004
317
Ocular coloboma: a reassessment in the age of molecular neuroscience. ( 15591273 )
2004
318
Ocular manifestations and surgical management of lid coloboma in a Chinese infant with linear nevus sebaceous syndrome. ( 15478746 )
2004
319
Ocular hypotony secondary to spontaneously ruptured sclera in choroidal coloboma. ( 15477474 )
2004
320
Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. ( 15384097 )
2004
321
Elevated thalamic low-voltage-activated currents precede the onset of absence epilepsy in the SNAP25-deficient mouse mutant coloboma. ( 15175394 )
2004
322
Duplication of the optic disc: true or pseudo? A coloboma or not a coloboma? ( 15134117 )
2004
323
Capsular tension ring use in a patient with congenital coloboma of the lens. ( 15030850 )
2004
324
Large pedunculated congenital corneal dermoid in association with eyelid coloboma. ( 14974836 )
2004
325
Rescue of defective branching nephrogenesis in renal-coloboma syndrome by the caspase inhibitor, Z-VAD-fmk. ( 14747376 )
2004
326
Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome. ( 14569086 )
2003
327
Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma. ( 12514363 )
2003
328
No colobomas in "renal coloboma" syndrome. ( 12578762 )
2003
329
The familial contribution to non-syndromic ocular coloboma in south India. ( 12598450 )
2003
330
Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. ( 12642301 )
2003
331
Duplication (22)(q11.22-q11.23) without coloboma and cleft lip or palate. ( 12654079 )
2003
332
Congenital bilateral upper eyelid coloboma. ( 12673270 )
2003
333
Diagnostic ophthalmology. Bilateral lenticular coloboma and cortical cataracts. ( 12677698 )
2003
334
Congenital iris coloboma repair using a modified McCannel suture technique. ( 12719095 )
2003
335
Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma. ( 12759129 )
2003
336
Choroidal neovascular membrane associated with optic nerve coloboma in a patient with CHARGE association. ( 12788148 )
2003
337
Ocular coloboma and radial aplasia: syndrome or association. ( 12802360 )
2003
338
An iris coloboma preventing pigmentary glaucoma. ( 12860819 )
2003
339
Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant. ( 12868481 )
2003
340
Ultrasound biomicroscopy in lens "coloboma". ( 12872797 )
2003
341
Paramacular coloboma. ( 12917574 )
2003
342
Infantile choroidal neovascularization associated with choroidal coloboma. ( 12972787 )
2003
343
A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. ( 14556245 )
2003
344
Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. ( 14566649 )
2003
345
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. ( 14608645 )
2003
346
Unilateral giant coloboma of the upper eyelid associated with other congenital anomalies (33 years follow-up of surgical repair). ( 14620177 )
2003
347
Coloboma of the crystalline lens. ( 14677728 )
2003
348
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. ( 12721955 )
2003
349
Congenital upper eyelid coloboma and cryptophthalmos. ( 12352825 )
2002
350
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? ( 12401986 )
2002
351
Focal limbal stem cell deficiency corresponding to an iris coloboma. ( 12446396 )
2002
352
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. ( 11826019 )
2002
353
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. ( 11772997 )
2002
354
Optic nerve entrance coloboma associated with situs inversus. ( 12532503 )
2002
355
Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant? ( 11822700 )
2002
356
Surgical management of retinal detachment with choroidal coloboma. ( 12220000 )
2002
357
Mild Noonan phenotype associated with coloboma of the iris and choroid. ( 11822712 )
2002
358
Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. ( 11830579 )
2002
359
Functional visual loss in patients with bilateral ocular coloboma. ( 12075298 )
2002
360
Papillorenal ("renal coloboma") syndrome. ( 12140054 )
2002
361
Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. ( 12368986 )
2002
362
Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22). ( 12386101 )
2002
363
Correction of eyelid coloboma in four cats using subdermal collagen and a modified Stades technique. ( 12445297 )
2002
364
De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris. ( 11491310 )
2001
365
Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report. ( 11504608 )
2001
366
Successful closure of spontaneous scleral fistula in retinochoroidal coloboma. ( 11483101 )
2001
367
Congenital intraocular teratoma associated with eyelid coloboma. ( 11476702 )
2001
368
Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family. ( 11241473 )
2001
369
Hereditary optic pit and iris coloboma in three generations of a single family. ( 11421024 )
2001
370
A modification of the Mustardé technique for the surgical repair of a large feline eyelid coloboma. ( 11422999 )
2001
371
Differentiation and migration of astrocyte precursor cells and astrocytes in human fetal retina: relevance to optic nerve coloboma. ( 11511521 )
2001
372
Renal coloboma syndrome. ( 11581073 )
2001
373
Renal-coloboma syndrome in a Brazilian family. ( 11594973 )
2001
374
Renal-coloboma syndrome: report of a novel PAX2 gene mutation. ( 11730657 )
2001
375
Expression of catecholaminergic mRNAs in the hyperactive mouse mutant coloboma. ( 11731016 )
2001
376
Neuromuscular transmission and muscle contractility in SNAP-25-deficient coloboma mice. ( 11829411 )
2001
377
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study. ( 11135491 )
2000
378
High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance. ( 10794262 )
2000
379
Optic nerve coloboma with retinal degeneration associated with cystic microphthalmia of the other eye. ( 10794267 )
2000
380
Nasopalpebral lipoma-coloboma syndrome. ( 11115270 )
2000
381
MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients. ( 11140419 )
2000
382
Coloboma mouse mutant as an animal model of hyperkinesis and attention deficit hyperactivity disorder. ( 10654661 )
2000
383
Influence of selective breeding on the prevalence of chorioretinal dysplasia and coloboma in the rough collie in Sweden. ( 10701187 )
2000
384
Visual acuity in children with coloboma: clinical features and a new phenotypic classification system. ( 10711890 )
2000
385
Morning glory disk anomaly, choroidal coloboma, and congenital constrictive malformations of the internal carotid arteries (moyamoya disease). ( 10779846 )
2000
386
Requirements for optical services in children with microphthalmos, coloboma and microcornea in southern India. ( 10845021 )
2000
387
Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma. ( 10934463 )
2000
388
Phacoemulsification and intraocular lens placement in eyes with cataract and congenital coloboma: visual acuity and complications. ( 10946196 )
2000
389
Iris coloboma with iris heterochromia: a common association. ( 11074823 )
2000
390
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. ( 11093271 )
2000
391
Microphthalmos and optic disc coloboma associated with a retrobulbar cyst. ( 11124677 )
2000
392
Using birth defects epidemiology to take CHARGE. Coloboma, Heart defect, choanal Atresia, Retardation, Genital, Ear anomaly. ( 10590393 )
1999
393
Retinoschisis associated with disc coloboma. ( 10209452 )
1999
394
Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations. ( 10466411 )
1999
395
Peripapillary coloboma simulating double optic disc. ( 10502586 )
1999
396
Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. ( 10533062 )
1999
397
Transgenic rescue of SNAP-25 restores dopamine-modulated synaptic transmission in the coloboma mutant. ( 10575087 )
1999
398
Pedunculated dermolipoma with overlying upper lid coloboma and absent lateral canthus: cause and effect. ( 10696337 )
1999
399
Maldevelopment of neural crest cells in patients with typical uveal coloboma. ( 11132666 )
1999
400
Two brothers with hypospadias, hypertelorism, upper lid coloboma and mixed type hearing loss: a new syndrome. ( 9843000 )
1998
401
Chorioretinal coloboma with hypoplasia of the inferior rectus muscle in a microphthalmic eye. ( 9503320 )
1998
402
Choroidal coloboma in two members of a family. ( 9562101 )
1998
403
Surgical management of retinal detachments related to coloboma of the choroid. ( 9593379 )
1998
404
Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs. ( 9689994 )
1998
405
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). ( 9760197 )
1998
406
Coloboma of the lens, optic nerve hypoplasia, and orbital hemangioma--a possible developmental field defect. ( 9895246 )
1998
407
Retinoblastoma in an eye with congenital uveal coloboma. ( 10646753 )
1998
408
Electroretinogram and visual-evoked potentials in children with optic nerve coloboma. ( 10855810 )
1998
409
Congenital hypodontia of maxillary lateral incisors in association with coloboma of the iris and hypomaturation type of amelogenesis imperfecta in a large kindred. ( 9484124 )
1997
410
Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. ( 9098485 )
1997
411
Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate. ( 9382148 )
1997
412
Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation. ( 9188674 )
1997
413
Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma) ( 9409878 )
1997
414
Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome. ( 9137880 )
1997
415
Prenatal growth retardation associated with microcephaly, microphthalmos/iris coloboma and other congenital malformations in three siblings. ( 9383034 )
1997
416
CHARGE syndrome: review of literature and report of case. Coloboma, heart disease, atresia of choanae, retarded mental development, genital hypoplasia, ear abnormalities-deafness. ( 9262806 )
1997
417
Subretinal neovascularization associated with retinochoroidal coloboma. ( 9475031 )
1997
418
Large congenital upper lid coloboma--successful delayed conservative management. ( 9168426 )
1997
419
A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies. ( 9182777 )
1997
420
Coloboma hyperactive mutant mice exhibit regional and transmitter-specific deficits in neurotransmission. ( 8978724 )
1997
421
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. ( 9106533 )
1997
422
Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease. ( 9132492 )
1997
423
Corneal coloboma, aphakia and retinal neovascularization with anterior segment dysgenesis (Peters' anomaly). ( 8887396 )
1996
424
Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst. ( 8741111 )
1996
425
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. ( 8862633 )
1996
426
Simple iris coloboma in a Greek family. ( 8689492 )
1996
427
Imaging in optic nerve coloboma. ( 8692434 )
1996
428
Hydrolethalus: a midline malformation syndrome with optic nerve coloboma and hypoplasia. ( 8740232 )
1996
429
Macular coloboma-like lesions and pigment abnormalities as complications of cryotherapy for retinopathy of prematurity in very low birth-weight infants. ( 8794702 )
1996
430
Systemic abnormalities associated with iris/nerve head/choroidal/retinal coloboma. ( 8843132 )
1996
431
The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. ( 8943028 )
1996
432
Optic disc in fundus coloboma. ( 9003347 )
1996
433
Coloboma contiguous gene deletion encompassing Snap alters hippocampal plasticity. ( 9132997 )
1996
434
Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele. ( 7748133 )
1995
435
Morning Glory fundus anomaly, coloboma of the optic nerve, porencephaly and hydronephrosis in a newborn infant: MCPH entity. ( 8574421 )
1995
436
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. ( 7545868 )
1995
437
Coloboma associated with Rubinstein-Taybi syndrome. ( 7494168 )
1995
438
Autosomal dominant typical coloboma associated with unilateral pseudoptosis, myopia and cataract. ( 7585914 )
1995
439
Optic nerve coloboma in Down syndrome. ( 7606327 )
1995
440
New familial association between ocular coloboma and loose anagen syndrome. ( 7628125 )
1995
441
Ophthalmoscopic visualization of the inferior ophthalmic vein through a chorioretinal coloboma. ( 7832239 )
1995
442
Coloboma of the optic disk associated with retinal vascular abnormalities. ( 8540556 )
1995
443
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? ( 8556825 )
1995
444
Mutation of PAX2 in two siblings with renal-coloboma syndrome. ( 8589702 )
1995
445
Coloboma hyperactive mutant exhibits delayed neurobehavioral developmental milestones. ( 8612329 )
1995
446
Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma. ( 8825900 )
1995
447
Pattern of retinal breaks and retinal detachments in eyes with choroidal coloboma. ( 9097749 )
1995
448
Joubert syndrome with polydactyly and optic coloboma in two sibs. ( 7721382 )
1994
449
Optic nerve aplasia associated with macular 'atypical colobomà'. ( 7747593 )
1994
450
Lens coloboma and Alport-like glomerulonephritis. ( 7819734 )
1994
451
Deletion map of the coloboma (Cm) locus on mouse chromosome 2. ( 7916325 )
1994
452
Selection of surgical technique for retinal detachment with coloboma of the choroid. ( 7927627 )
1994
453
Self-assessment quiz. Coloboma of the optic nerve and retina. ( 7983689 )
1994
454
Optic nerve coloboma (morning glory syndrome): CT findings. ( 8134598 )
1994
455
Photoreceptor orientation in iris coloboma. ( 8152744 )
1994
456
Morning glory disc anomaly or optic disc coloboma? ( 8311756 )
1994
457
Morning glory disc anomaly or optic disc coloboma? ( 8311757 )
1994
458
Peripapillary subretinal neovascularization associated with coloboma of the optic nerve. ( 8311758 )
1994
459
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome? ( 8320709 )
1993
460
Ptosis, coloboma, hypertelorism and mental retardation. ( 8471225 )
1993
461
Limb-body wall complex with anophthalmos and choroidal coloboma. ( 8372034 )
1993
462
Noonan's syndrome with keratoconus and optic disc coloboma. ( 8353429 )
1993
463
Peripapillary choroidal neovascular membrane associated with an optic nerve coloboma. ( 7682407 )
1993
464
Congenital lens coloboma and associated pathologies. ( 8223101 )
1993
465
Inferior congenital iris coloboma and IOL implantation. ( 8229733 )
1993
466
Optic disc coloboma associated with macular hole and retinal detachment. ( 8297073 )
1993
467
Phenotypic correlations of ocular coloboma without known cause. ( 8305963 )
1993
468
Anomalous Cloquet's canal in a case of optic nervehead coloboma associated with extensive retinal detachment. ( 8318488 )
1993
469
Classification of microphthalmos and coloboma. ( 8411053 )
1993
470
Two cases of coloboma associated with unbalanced translocations. ( 8435414 )
1993
471
Peripapillary subretinal neovascularization associated with coloboma of the optic nerve. ( 8470992 )
1993
472
Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. ( 1415341 )
1992
473
Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body. ( 1416626 )
1992
474
Bilateral retinal detachment with large breaks of pars plicata associated with coloboma lentis and ocular hypertension. ( 1635302 )
1992
475
A new syndrome with ptosis, coloboma and mental retardation. ( 1642810 )
1992
476
Spontaneous retinal reattachment in a patient with persistent hyperplastic primary vitreous and an optic nerve coloboma. ( 1463051 )
1992
477
Bilateral macular coloboma and pigmented paravenous retinochoroidal atrophy. ( 1390499 )
1992
478
Typical ocular coloboma affects three generations in one family. ( 1444080 )
1992
479
Update of sporadic microphthalmos and coloboma. Non-inherited anomalies. ( 1495761 )
1992
480
Management of retinal detachment associated with choroidal coloboma using perfluoroperhydrophenanthrene (Vitreon). ( 1508487 )
1992
481
Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome. ( 1518028 )
1992
482
New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. ( 1554017 )
1992
483
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. ( 1865474 )
1991
484
Nasopalpebral lipoma-coloboma syndrome. ( 1756608 )
1991
485
Subretinal neovascular membrane in an infant with a retinochoroidal coloboma. ( 1726773 )
1991
486
Retinochoroidal coloboma and subretinal neovascularization. ( 2029115 )
1991
487
Management of retinal detachment with choroidal coloboma. ( 1800922 )
1991
488
Spontaneous reattachment of a total retinal detachment in an infant with microphthalmos and an optic nerve coloboma. ( 1882950 )
1991
489
An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. ( 1923314 )
1991
490
Vitreous surgery for retinal detachment associated with choroidal coloboma. ( 1929928 )
1991
491
Optic nerve coloboma with cyst: a case report and review. ( 1955964 )
1991
492
Contractile optic disc coloboma. ( 2012542 )
1991
493
White sponge naevus and ocular coloboma. ( 2031612 )
1991
494
Congenital coloboma in a IIama. ( 17423822 )
1991
495
Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report. ( 2373111 )
1990
496
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay. ( 1694631 )
1990
497
Retinochoroidal coloboma: varieties of clinical presentations. ( 2310120 )
1990
498
Repair of iris coloboma by a closed chamber technique. ( 2102690 )
1990
499
Coloboma: evaluation with real-time sonography. ( 2105034 )
1990
500
Congenital macular coloboma in Down syndrome. ( 2142386 )
1990
501
Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome. ( 2348981 )
1990
502
Macular coloboma. ( 2355165 )
1990
503
Iris coloboma, ptosis, hypertelorism, and mental retardation. ( 2918534 )
1989
504
Iris reconstruction by coloboma repair. ( 2616126 )
1989
505
Neurophysiological correlates in a case of unilateral iris and chorioretinal coloboma. ( 2760396 )
1989
506
Bilateral macular coloboma associated with progressive atrophy of the peripheral retina. ( 2919039 )
1989
507
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. ( 2929661 )
1989
508
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. ( 3351890 )
1988
509
Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. ( 3172144 )
1988
510
Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality. ( 3231430 )
1988
511
Odontodysplasia associated with orbital coloboma. ( 2840940 )
1988
512
Retinal dystrophy and macular coloboma. ( 3042323 )
1988
513
Treatment of sensory retinal detachment associated with optic nerve pit or coloboma. ( 3173991 )
1988
514
Superotemporal coloboma of the iris, ciliary body, and choroid. ( 3177581 )
1988
515
Optic nerve coloboma associated with renal disease. ( 3377002 )
1988
516
Autosomal dominantly inherited optic nerve coloboma. ( 3405590 )
1988
517
Unilateral disc-shaped cataract with coloboma of lens. ( 3411810 )
1988
518
Progressive visual loss caused by an arachnoidal brain cyst in a patient with an optic nerve coloboma. ( 3421293 )
1988
519
Ocular coloboma and hypothalamic hypogonadism. Case report. ( 3632408 )
1987
520
Single maxillary central incisor and coloboma in hypomelanosis of Ito. ( 3621638 )
1987
521
Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly. ( 3113318 )
1987
522
Isolated coloboma of the optic nerve head: an echographic evaluation. ( 3296917 )
1987
523
Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field. ( 3309769 )
1987
524
Applications of digital image analysis: the topography of an optic disc coloboma and alterations in the retinal vessels in an arteriovenous malformation. ( 3451394 )
1987
525
Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc). ( 3018249 )
1986
526
Laser treatment of a subretinal neovascular membrane associated with retinochoroidal coloboma. ( 2432636 )
1986
527
CT images in constitutional abnormalities of the posterior pole of the eye: optic disc coloboma, posterior pole staphyloma. ( 3091785 )
1986
528
Corneal changes in familial iris coloboma. ( 3703500 )
1986
529
Corneal changes in familial iris coloboma. ( 3785900 )
1986
530
Corneal involvement in autosomal dominant coloboma/microphthalmos. ( 3801978 )
1986
531
Congenital upper lid coloboma. ( 3814418 )
1986
532
Retinochoroidal coloboma associated with subretinal neovascularization. ( 2416022 )
1985
533
Spontaneous posterior bulbar perforation of congenital scleral coloboma and its surgical treatment: a case report. ( 2410845 )
1985
534
Retinal detachment associated with coloboma of the choroid. ( 3832536 )
1985
535
Bilateral coloboma of lens in Marfan's syndrome. ( 3841870 )
1985
536
Chorioretinal coloboma and Joubert syndrome. ( 4009336 )
1985
537
Coloboma of the optic nerve head in Bengal tiger kittens (Panthera tigris tigris). ( 4036750 )
1985
538
Multiple ocular coloboma (MOC) in snow leopards (Panthera uncia). Clinical report, pedigree analysis, chromosome investigations and serum protein studies. ( 4086323 )
1985
539
Esophageal atresia, coloboma, and clubfoot in two unrelated infants. ( 6469248 )
1984
540
Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. ( 6548623 )
1984
541
Coloboma of lens. ( 6500659 )
1984
542
Chorioretinal coloboma and Joubert syndrome: a nonrandom association. ( 6747764 )
1984
543
Uveal coloboma associated with amniotic band syndrome. ( 6871792 )
1983
544
Bilateral congenital coloboma of lids, fusion of gums and the temporomandibular joints. ( 6660727 )
1983
545
A discussion of 61 cases of optic nerve coloboma. ( 6662005 )
1983
546
Hamartomatous adenoma of the nonpigmented ciliary epithelium arising in iris-ciliary body coloboma. Light and electron microscopic observations. ( 6677854 )
1983
547
The nasopalpebral lipoma-coloboma syndrome: a new autosomal dominant dysplasia-malformation syndrome with congenital nasopalpebral lipomas, eyelid colobomas, telecanthus, and maxillary hypoplasia. ( 7091184 )
1982
548
Infantile idiopathic hypercalciuria, high congenital myopia, and atypical macular coloboma: a new oculo-renal syndrome? ( 7108709 )
1982
549
Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. ( 6982666 )
1982
550
Repair of sector iris coloboma. Closed-chamber technique. ( 7039574 )
1982
551
Surgical management of congenital eyelid coloboma. ( 7088491 )
1982
552
Diagnostic precision in microphthalmos and coloboma of heterogeneous origin. ( 7171763 )
1982
553
Brief Clinical Report: coloboma hypospadias. ( 7246606 )
1981
554
Progressive lenticular astigmatism associated with nuclear sclerosis and coloboma of the iris, lens, and choroid: case report. ( 7247156 )
1981
555
Inheritance of microphthalmia with coloboma in the Australian shepherd dog. ( 7325429 )
1981
556
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. ( 6166737 )
1981
557
Ocular coloboma. ( 6782689 )
1981
558
Possible autosomal-recessive ocular coloboma. ( 7282780 )
1981
559
Development of coloboma (Cm/+), a mutation with anterior lens adhesion. ( 7283170 )
1981
560
Reconstruction of an upper lip and the coloboma in the nasal ala accompanying with Freeman-Sheldon syndrome. ( 7316645 )
1981
561
Retinal detachment with coloboma of the choroid. ( 7346456 )
1981
562
Ocular coloboma with congenital heart disease in the absence of chromosomal abnormalities. ( 7015216 )
1980
563
The Joubert syndrome associated with bilateral chorioretinal coloboma. ( 7439204 )
1980
564
Coloboma of optic nerve with overlay of peripapillary retina. ( 666981 )
1978
565
Unilateral cataract with lens coloboma and bilateral corneal edema in a guanaco. ( 738962 )
1978
566
Partial coloboma of the limbus. ( 711272 )
1978
567
Inheritance of ocular coloboma in Charolais. ( 754408 )
1978
568
A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis. ( 839509 )
1977
569
Pseudodoubling of the optic disc. A fluorescein angiographic study of a case with coloboma. ( 578644 )
1977
570
Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat. ( 860750 )
1977
571
Coloboma in progressive hemifacial atrophy. ( 900223 )
1977
572
Bilateral microcornea, coloboma, short stature and other skeletal anomalies - a new hereditary syndrome. ( 974245 )
1976
573
Correspondence: Coloboma in Charolais. ( 804205 )
1975
574
Letter: Coloboma in Charolais. ( 1119070 )
1975
575
Atypical coloboma in the optic disc of a Beagle. ( 1141461 )
1975
576
Correspondence: Coloboma in Charolais cattle. ( 1168005 )
1975
577
Arhinencephaly unilateralis, uveal coloboma, and lens reduplication. ( 4205015 )
1974
578
Optic nerve pit and associated coloboma with serous detachment. ( 4359280 )
1974
579
Editorial: Coloboma and cattle licensing. ( 4450427 )
1974
580
Correspondence. Coloboma in Charolais. ( 4450433 )
1974
581
Systemic associations of uveal coloboma. ( 4457104 )
1974
582
Retinal aplasia in association with macular coloboma, keratoconus and cataract. ( 4765210 )
1973
583
Heterochromia iridum with coloboma of the optic disc. ( 4759427 )
1973
584
Peters' anomaly and total posterior coloboma of retinal pigment epithelium and choroid. ( 4623873 )
1972
585
Congenital coloboma of the upper eyelid. ( 4625826 )
1972
586
Coloboma of the iris and choroid and retinal detachment in oculo-auricular dysplasia (Goldenhar syndrome). ( 5076735 )
1972
587
Midface syndrome with iridochoroidal coloboma and deafness in a mother: microphthalmia in her son. ( 5173221 )
1971
588
Bilateral macular coloboma, keratoconus, and retinitis pigmentosa. ( 5164435 )
1971
589
Intrascleral smooth muscle in coloboma of the optic disk. Electron microscopic verification. ( 4998989 )
1971
590
Cleft lip and chorioideal coloboma associated with multiple hypothalamo-pituitary dysfunctions. ( 5002717 )
1971
591
Heterochromia associated with coloboma of the iris. ( 5110870 )
1971
592
An unusual case of persistent hyaloid artery with retinal and uveal coloboma. ( 5164432 )
1971
593
An unusual case of progeria-like dwarfism with bilateral macular coloboma. ( 5490625 )
1970
594
Sex-linked coloboma in the chicken. ( 4987460 )
1970
595
Uveal coloboma and true Klinefelter syndrome. ( 4992342 )
1970
596
Hereditary macular coloboma. ( 4992343 )
1970
597
Coloboma of eyelid and harelip. A case report. ( 4981563 )
1969
598
Macular coloboma and skeletal abnormality. ( 4977272 )
1969
599
Developmental giant retinal tears associated with lens coloboma. ( 4970320 )
1968
600
Cataract extraction in a case of congenital coloboma of the iris. ( 4972901 )
1968
601
Coloboma of the optic nerve entrance. ( 4959584 )
1966
602
CHROMOSOME STUDIES IN FIVE CASES OF COLOBOMA OF THE IRIS. ( 14250083 )
1965
603
COLOBOMA OF THE OPTIC DISK MISTAKEN CLINICALLY FOR RETINOBLASTOMA. ( 14269136 )
1965
604
CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA. ( 14330081 )
1965
605
HISTOPATHOLOGY IN A CASE OF UNILATERAL MICROCORNEA PLANA (ASSOCIATED WITH COLOBOMA OF CHOROID). FIRST HISTOPATHOLOGICAL DESCRIPTION. ( 14186616 )
1964
606
ATYPICAL COLOBOMA OF THE CHOROID IN A DOG. ( 14072820 )
1963
607
FAMILIAL SYNDROME OF DYSPLASTIC BODY BUILD, MENTAL RETARDATION AND CHOROIDO-RETINAL COLOBOMA. ( 14136828 )
1963
608
Microcornea with high myopia, coloboma of iris and exophthalmos: report of a case. ( 13898627 )
1962
609
MICROCORNEA AND CONGENITAL COLOBOMA OF IRIS AND CHOROID IN ONE EYE WITH CONGENITAL GLAUCOMA AND CORNEAL OPACITY IN THE OTHER EYE. ( 18170686 )
1961
610
Syndrome of coloboma with multiple congenital abnormalities in infancy. ( 13683558 )
1961
611
Retinal detachment associated with coloboma of the choroid. ( 13789985 )
1961
612
UNUSUAL COLOBOMA OF THE OPTIC NERVE ENTRANCE. ( 18170740 )
1961
613
Arthropathia Progressiva Mutilans: Congenital Coloboma-Partially Sighted: Gross Dorsal Scoliosis. ( 19994003 )
1959
614
Congenital coloboma associated with cystic degeneration of the ciliary body. ( 13381227 )
1957
615
Eyelid coloboma with cutaneocorneal bridge. ( 13361617 )
1956
616
Coloboma of uveal tract. ( 14361597 )
1955
617
Unilateral coloboma nervi optici combined with a homolateral block of aquaeductus monro; a case report. ( 13327645 )
1954
618
Dermoid tumor of the cornea associated with coloboma of the upper lid and optic nerve. ( 14368844 )
1954
619
Congenital bilateral coloboma of iris and chorioid; a case report. ( 13104607 )
1953
620
Coloboma of lower lid and choroid, with facial defects and deformity of hand and forearm. ( 13079373 )
1953
621
Coloboma papillae et chorioideae associated with changes at the macula. ( 13026142 )
1952
622
Atypical coloboma of choroid with dysplasia of macula; report of a case. ( 14894016 )
1952
623
Congenital coloboma of choroid. ( 14846880 )
1951
624
Congenital Coloboma of the Lid. ( 19993772 )
1951
625
A case of atypical coloboma. ( 14845841 )
1950
626
Coloboma of the optic nerve. ( 15425618 )
1950
627
Progeria? with erythema of hands and feet, partial alopecia, congenital coloboma and osteoporosis. ( 18210563 )
1949
628
Coloboma of the optic nerve. ( 18121101 )
1949
629
Coloboma of optic nerve. ( 20288287 )
1947
630
A CASE OF BILATERAL COLOBOMA OF THE OPTIC DISC. ( 18170390 )
1947
631
Coloboma of the eyelids. ( 20284718 )
1947
632
BILATERAL PARTIAL COLOBOMA OF THE OPTIC NERVE. ( 18170279 )
1946
633
Coloboma and ectopia lentis in arachnodactyly. ( 20279177 )
1946
634
MACULAR COLOBOMA WITH BILATERAL GROUPED PIGMENTATION OF THE RETINA. ( 18170096 )
1945
635
Atypical coloboma of the choroid. ( 21006576 )
1945
636
Left Macular Coloboma. ( 19992955 )
1944
637
Extrapapillary Coloboma. ( 16693290 )
1942
638
Coloboma of the Optic Nerve in the Human Embryo. ( 16693203 )
1939
639
MACULAR COLOBOMA: HISTOLOGICAL REPORT. ( 18169664 )
1939
640
Twinning and Ocular Pathology, with a Report of Bilateral Macular Coloboma in Monozygotic Twins. ( 16693105 )
1936
641
Ocular Coloboma: Report of Cases. ( 18743685 )
1936
642
CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE FAMILIAL OCCURRENCE OF BILATERAL MACULAR COLOBOMA IN ASSOCIATION WITH APICAL DYSTROPHY OF HANDS AND FEET. ( 18169256 )
1935
643
Summarized Reports of Eight Cases of Coloboma of Iris and Choroid (Congenital). ( 19989749 )
1934
644
COLOBOMA LENTIS WITH ABNORMAL CILIARY BODY. ( 18168994 )
1931
645
Pseudo-Coloboma of Iris. ( 19987872 )
1930
646
ATYPICAL COLOBOMA AND VASCULAR ANOMALY. ( 18168848 )
1930
647
Bilateral Congenital Coloboma of Uveal Tract. ( 19987774 )
1930
648
Bilateral Coloboma of the Optic Nerve Associated with Holes in the Disc and a Cyst of the Optic Sheath. ( 16692831 )
1929
649
COLOBOMA OF THE OPTIC NERVE WITH REMAINS OF THE HYALOID ARTERY. ( 18168808 )
1929
650
REPORT ON A CASE OF SO-CALLED COLOBOMA OF THE MACULA. ( 18168812 )
1929
651
A CASE OF ATYPICAL COLOBOMA ASSOCIATED WITH ABNORMAL RETINAL VESSELS. ( 18168834 )
1929
652
CRATER-LIKE HOLE AND COLOBOMA OF THE DISC ASSOCIATED WITH CHANGES AT THE MACULA. ( 18168589 )
1927
653
COLOBOMA AT THE MACULA (BOTH EYES). ( 18168612 )
1927
654
DISCUSSION ON COLOBOMA OF THE MACULA. ( 19985572 )
1927
655
DISCUSSION ON COLOBOMA OF THE MACULA. ( 19985573 )
1927
656
DISCUSSION ON COLOBOMA OF THE MACULA. ( 19985574 )
1927
657
DISCUSSION ON COLOBOMA OF THE MACULA. ( 19985575 )
1927
658
DISCUSSION ON COLOBOMA OF THE MACULA. ( 19985576 )
1927
659
DISCUSSION ON COLOBOMA OF THE MACULA. ( 19985577 )
1927
660
DISCUSSION ON COLOBOMA OF THE MACULA. ( 19985578 )
1927
661
DISCUSSION ON COLOBOMA OF THE MACULA. ( 19985579 )
1927
662
DISCUSSION ON COLOBOMA OF THE MACULA. ( 19985580 )
1927
663
Bilateral "Macular Coloboma" in Mother and Son. ( 19986141 )
1927
664
ATYPICAL COLOBOMA OF THE IRIS. ( 18168563 )
1926
665
Coloboma of the Lens. ( 19985218 )
1926
666
A CASE OF ECTOPIA LENTIS WITH COLOBOMA. ( 18168390 )
1924
667
Coloboma of Optic Nerve (? Traumatic). ( 19982510 )
1922
668
Case of Friedreich's Ataxia associated with Coloboma of Iris and Choroid. ( 19982579 )
1922
669
Case of Congenital Morbus Cordis associated with Coloboma of Iris and Choroid. ( 19982581 )
1922
670
Bridge Coloboma of the Iris-Slit Lamp Examination of Two Cases. ( 16692609 )
1922
671
Case of Coloboma of the Macula. ( 19981960 )
1921
672
Coloboma confined to Optic Disc. ( 19981961 )
1921
673
Rare Condition of Optic Disc (?) Coloboma. ( 19981968 )
1921
674
Coloboma and So-called Congenital Dislocation of the Lens. ( 16692480 )
1919
675
Coloboma of Optic Disk and Choroid. ( 19980282 )
1918
676
Two Cases of Congenital Coloboma of Iris and Choroid. ( 16692424 )
1917
677
Large Coloboma of the Upper Lid; Operation; Result. ( 19979438 )
1916
678
Coloboma of Iris in Mother and Child. ( 19978967 )
1915
679
Two Cases of Binocular Coloboma of the Optic Nerve in the Same Family. ( 16692292 )
1913
680
A Double Coloboma (Nasal and Temporal) of the Optic Nerve and Sheath: Exhibition of Drawing. ( 16692245 )
1911
681
A Case of Bilateral Macular Coloboma. ( 16692171 )
1909
682
Congenital coloboma of eyelid. ( 25259367 )
1901
683
REMARKS on a CASE of CONGENITAL WEB BETWEEN the VOCAL CORDS ASSOCIATED with COLOBOMA of the LEFT UPPER EYELID. ( 20757843 )
1898
684
Two Cases of Coloboma Iridis in Mother and Son, with Monocular Policoria Also in the Son. ( 29002837 )
1897
685
A FAMILY HISTORY OF IRIDEREMIA AND COLOBOMA IRIDIS:-CATARACT OPERATIONS ON TWO MEMBERS (BROTHERS). ( 25259161 )
1894
686
A CASE OF BINOCULAR COLOBOMA OF THE LENS WITH ACCOMMODATIVE POWER RETAINED. ( 25259175 )
1894
687
Coloboma of the Iris, Polycoria, and Primary Glaucoma. ( 25259096 )
1891
688
Coloboma of the Optic Nerve and Sheath. ( 16691815 )
1887
689
Description of a Case of Coloboma of the Iris, Lens and Choroid: With a Study of the Visual Fields. ( 16691816 )
1887
690
Coloboma of the Choroid and Iris. ( 20749815 )
1881

Variations for Coloboma of Macula

ClinVar genetic disease variations for Coloboma of Macula:

6 (showing 32, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
2 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh37 Chromosome 11, 31811483: 31811483
3 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh38 Chromosome 11, 31789935: 31789935
4 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343
5 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh38 Chromosome 11, 31793795: 31793795
6 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh37 Chromosome 2, 38298394: 38298394
7 CYP1B1 NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His) single nucleotide variant Conflicting interpretations of pathogenicity rs79204362 GRCh38 Chromosome 2, 38071251: 38071251
8 CYP1B1 NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs9282671 GRCh37 Chromosome 2, 38302291: 38302291
9 CYP1B1 NM_000104.3(CYP1B1): c.241T> A (p.Tyr81Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs9282671 GRCh38 Chromosome 2, 38075148: 38075148
10 CYP1B1 NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs57865060 GRCh37 Chromosome 2, 38301847: 38301847
11 CYP1B1 NM_000104.3(CYP1B1): c.685G> A (p.Glu229Lys) single nucleotide variant Conflicting interpretations of pathogenicity, other rs57865060 GRCh38 Chromosome 2, 38074704: 38074704
12 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh37 Chromosome 2, 38301664: 38301664
13 CYP1B1 NM_000104.3(CYP1B1): c.868dupC (p.Arg290Profs) duplication Pathogenic rs587778875 GRCh38 Chromosome 2, 38074521: 38074521
14 BFSP1 NM_001195.4(BFSP1): c.1995_1996delTT (p.Ter666Lysfs) deletion Benign rs548358901 GRCh37 Chromosome 20, 17474721: 17474722
15 BFSP1 NM_001195.4(BFSP1): c.1995_1996delTT (p.Ter666Lysfs) deletion Benign rs548358901 GRCh38 Chromosome 20, 17494076: 17494077
16 BFSP1 NM_001161705.1(BFSP1): c.401G> C (p.Cys134Ser) single nucleotide variant Uncertain significance rs557601555 GRCh37 Chromosome 20, 17479645: 17479645
17 BFSP1 NM_001161705.1(BFSP1): c.401G> C (p.Cys134Ser) single nucleotide variant Uncertain significance rs557601555 GRCh38 Chromosome 20, 17499000: 17499000
18 SLC16A12 NM_213606.3(SLC16A12): c.472T> C (p.Ser158Pro) single nucleotide variant Uncertain significance rs150800688 GRCh37 Chromosome 10, 91198917: 91198917
19 SLC16A12 NM_213606.3(SLC16A12): c.472T> C (p.Ser158Pro) single nucleotide variant Uncertain significance rs150800688 GRCh38 Chromosome 10, 89439160: 89439160
20 YAP1 NM_001130145.3(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh38 Chromosome 11, 102114192: 102114192
21 YAP1 NM_001130145.3(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh37 Chromosome 11, 101984923: 101984923
22 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh38 Chromosome 11, 65885181: 65885181
23 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh37 Chromosome 11, 65652652: 65652652
24 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
25 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh37 Chromosome 8, 94798483: 94798483
26 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh38 Chromosome 11, 31793787: 31793787
27 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh37 Chromosome 11, 31815335: 31815335
28 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh37 Chromosome 9, 123234112: 123234112
29 CDK5RAP2 NM_018249.5(CDK5RAP2): c.1772G> A (p.Arg591Gln) single nucleotide variant Uncertain significance rs749612238 GRCh38 Chromosome 9, 120471834: 120471834
30 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic rs1329285216 GRCh38 Chromosome 10, 93593997: 93593997
31 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic rs1329285216 GRCh37 Chromosome 10, 95353754: 95353754
32 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970

Copy number variations for Coloboma of Macula from CNVD:

7 (showing 1, show less)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 80271 13 88800000 93800000 Deletion coloboma

Expression for Coloboma of Macula

Search GEO for disease gene expression data for Coloboma of Macula.

Pathways for Coloboma of Macula

Pathways related to Coloboma of Macula according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1 10.96 FZD5 PAX6 VAX2

GO Terms for Coloboma of Macula

Biological processes related to Coloboma of Macula according to GeneCards Suite gene sharing:

(showing 14, show less)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.73 ABCB6 PAX6 VAX1 VAX2
2 central nervous system development GO:0007417 9.69 CHD7 PAX6 VAX1
3 axonogenesis GO:0007409 9.63 PAX2 PAX6 VAX2
4 retina development in camera-type eye GO:0060041 9.58 CHD7 PAX6 VAX2
5 cell fate determination GO:0001709 9.49 PAX2 PAX6
6 embryonic camera-type eye morphogenesis GO:0048596 9.48 FZD5 PAX6
7 eye development GO:0001654 9.46 MAB21L2 PAX6 RBP4 SALL2
8 regulation of neurogenesis GO:0050767 9.43 CHD7 PAX6 YAP1
9 visual perception GO:0007601 9.43 CRYAA CYP1B1 PAX2 PAX6 RBP4 VAX2
10 dorsal/ventral axis specification GO:0009950 9.37 PAX6 VAX2
11 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.32 PAX2 YAP1
12 camera-type eye development GO:0043010 9.1 CHD7 MAB21L2 PAX2 PAX6 VAX1 VAX2
13 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 CHD7 FZD5 PAX2 PAX6 SALL2 YAP1
14 multicellular organism development GO:0007275 10 FZD5 MAB21L2 PAX2 PAX6 VAX1 VAX2

Molecular functions related to Coloboma of Macula according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.13 PAX6 VAX1 VAX2
2 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding GO:0001162 8.62 VAX1 VAX2

Sources for Coloboma of Macula

3 CDC
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9 Cosmic
10 dbSNP
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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