MCID: RTN008
MIFTS: 81

Retinitis Pigmentosa

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa

MalaCards integrated aliases for Retinitis Pigmentosa:

Name: Retinitis Pigmentosa 53 37 12 72 72 49 24 55 71 36 28 51 41 14 69
Rp 53 49 24 71
Rod-Cone Dystrophy 49 24 71
Retinitis Pigmentosa 1 41 69
Retinitis Pigmentosa Autosomal Recessive 71
Pericentral Pigmentary Retinopathy 12
Non-Syndromic Retinitis Pigmentosa 71
Tapetoretinal Degeneration 24
Pigmentary Retinopathy 24
Cone Rod Dystrophy 55
Arrp 71
Rcd 71

Characteristics:

Orphanet epidemiological data:

55
retinitis pigmentosa
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-5/10000 (Europe),1-5/10000 (Worldwide),1-5/10000 (Denmark),1-5/10000 (Norway),1-5/10000 (United States),1-5/10000 (United Kingdom),1-5/10000 (China),1-5/10000 (Slovenia); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;
cone rod dystrophy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive most frequent, autosomal dominant next, and x-linked recessive least frequent


Classifications:

Orphanet: 55  
Rare eye diseases


Summaries for Retinitis Pigmentosa

OMIM : 53 Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). (268000)

MalaCards based summary : Retinitis Pigmentosa, also known as rp, is related to rhyns syndrome and retinitis pigmentosa 1, and has symptoms including photophobia, ophthalmoplegia and obesity. An important gene associated with Retinitis Pigmentosa is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Phototransduction and Retinol metabolism. The drugs Lutein and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are nervous system and cardiovascular system

Disease Ontology : 12 A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.

Genetics Home Reference : 24 Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

NIH Rare Diseases : 49 Retinitis pigmentosa (RP) is a group of inheritedeye diseases that affect the light-sensitive part of the eye (retina). RP causes cells in the retina to die, causing progressive vision loss. The first sign of RP usually is night blindness. As the condition progresses, affected individuals develop tunnel vision (loss of peripheral vision), and eventually loss of central vision. RP may be caused by mutations in any of at least 50 genes. Inheritance can be autosomal dominant, autosomal recessive, or X-linked. Treatment options to slow the progression of vision loss include light avoidance, use of low-vision aids, and vitamin A supplementation. Researchers are working to develop new treatment options for the future such as gene therapy, stem cell transplantation and prosthetic implants. Last updated: 10/18/2016

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

Related Diseases for Retinitis Pigmentosa

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 429, show less)
# Related Disease Score Top Affiliating Genes
1 rhyns syndrome 36.1 CLRN1 CNGA1 CNGB1 CRB1 CRX EYS
2 retinitis pigmentosa 1 35.2 PRPH2 RHO RP1
3 retinitis pigmentosa 7 35.1 PRPH2 RHO ROM1
4 retinitis pigmentosa 43 35.0 PDE6A PDE6B RHO
5 retinitis pigmentosa 19 34.8 CNGA1 PDE6B
6 cone-rod dystrophy 2 34.8 CERKL CRB1 CRX PRPH2 RHO RPE65
7 retinitis pigmentosa 38 34.8 MERTK RPE65
8 leber congenital amaurosis 4 34.7 CRX PDE6A RPE65
9 retinitis pigmentosa 44 34.5 RDH12 RPGR
10 usher syndrome, type i 34.4 CLRN1 RHO USH2A
11 nonsyndromic retinitis pigmentosa 34.4 CLRN1 USH2A
12 usher syndrome 34.1 CLRN1 RPGR USH2A
13 retinitis 34.1 CERKL EYS PRPH2 RHO RP1 RPE65
14 usher syndrome, type iid 33.5 RHO RPGR USH2A
15 usher syndrome, type iic 33.4 CLRN1 CRB1 PDE6A PDE6B USH2A
16 leber congenital amaurosis 33.1 CRB1 CRX MERTK PDE6A PDE6B PRPH2
17 retinal degeneration 32.9 CRB1 CRX PDE6B PRPH2 RHO ROM1
18 stargardt disease 32.5 CRB1 EYS MERTK PRPH2 RDH12 RHO
19 retinal disease 32.3 CNGB1 CRB1 CRX PDE6B PRPH2 RDH12
20 fundus dystrophy 32.2 CERKL CRB1 CRX EYS MERTK PRPH2
21 macular degeneration, age-related, 1 32.0 CRB1 PDE6B PRPH2 RHO RPE65
22 congenital stationary night blindness 31.5 PDE6B RHO RPE65 RPGR
23 fundus albipunctatus 31.5 PDE6B PRPH2 RHO RPE65
24 achromatopsia 31.2 CNGB1 RPE65 RPGR
25 stargardt disease 1 31.1 CRX RHO ROM1
26 macular dystrophy, dominant cystoid 31.0 CRB1 PDE6A
27 newfoundland rod-cone dystrophy 12.7
28 retinitis pigmentosa 3 12.5
29 posterior column ataxia with retinitis pigmentosa 12.5
30 neuropathy, ataxia, and retinitis pigmentosa 12.5
31 retinitis pigmentosa 2 12.5
32 retinitis pigmentosa 11 12.4
33 retinitis pigmentosa 4 12.4
34 retinitis pigmentosa 9 12.4
35 retinitis pigmentosa 12 12.4
36 retinitis pigmentosa 14 12.4
37 retinitis pigmentosa 13 12.4
38 retinitis pigmentosa 25 12.4
39 retinitis pigmentosa 17 12.4
40 retinitis pigmentosa 18 12.4
41 retinitis pigmentosa 26 12.4
42 retinitis pigmentosa 28 12.4
43 retinitis pigmentosa 31 12.4
44 retinitis pigmentosa 33 12.4
45 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.4
46 retinitis pigmentosa 10 12.4
47 retinitis pigmentosa-deafness syndrome 12.4
48 retinitis pigmentosa 23 12.4
49 retinitis pigmentosa 27 12.4
50 retinitis pigmentosa 45 12.4
51 retinitis pigmentosa 6 12.3
52 retinitis pigmentosa 22 12.3
53 retinitis pigmentosa 50 12.3
54 retinitis pigmentosa 24 12.3
55 retinitis pigmentosa 67 12.3
56 retinitis pigmentosa 69 12.3
57 retinitis pigmentosa 30 12.3
58 retinitis pigmentosa 35 12.3
59 retinitis pigmentosa 36 12.3
60 retinitis pigmentosa 41 12.3
61 retinitis pigmentosa 46 12.3
62 retinitis pigmentosa 57 12.3
63 retinitis pigmentosa 20 12.3
64 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 12.3
65 retinitis pigmentosa 42 12.3
66 retinitis pigmentosa 51 12.3
67 retinitis pigmentosa 55 12.3
68 retinitis pigmentosa 58 12.3
69 retinitis pigmentosa 49 12.3
70 retinitis pigmentosa 47 12.3
71 retinitis pigmentosa 48 12.3
72 retinitis pigmentosa 59 12.3
73 retinitis pigmentosa 60 12.3
74 retinitis pigmentosa 62 12.3
75 retinitis pigmentosa 75 12.3
76 retinitis pigmentosa 37 12.3
77 retinitis pigmentosa 54 12.3
78 retinitis pigmentosa 56 12.3
79 retinitis pigmentosa 40 12.3
80 retinitis pigmentosa 39 12.3
81 retinitis pigmentosa 61 12.3
82 retinitis pigmentosa 66 12.3
83 retinitis pigmentosa 68 12.3
84 retinitis pigmentosa 70 12.3
85 retinitis pigmentosa 71 12.3
86 retinitis pigmentosa 72 12.3
87 retinitis pigmentosa 73 12.3
88 retinitis pigmentosa with or without situs inversus 12.3
89 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 12.3
90 retinitis pigmentosa 74 12.3
91 retinitis pigmentosa with or without skeletal anomalies 12.2
92 retinitis pigmentosa 32 12.2
93 retinitis pigmentosa 29 12.2
94 retinitis pigmentosa 76 12.2
95 retinitis pigmentosa 79 12.2
96 retinitis pigmentosa, late-adult onset 12.2
97 retinitis pigmentosa 34 12.2
98 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 12.2
99 retinitis pigmentosa and erythrocytic microcytosis 12.2
100 retinitis pigmentosa 77 12.2
101 retinitis pigmentosa 78 12.2
102 retinitis pigmentosa, y-linked 12.2
103 retinitis pigmentosa 63 12.2
104 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 12.2
105 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 12.2
106 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.2
107 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration 12.2
108 tapetoretinal degeneration with ataxia 12.1
109 cerebellar hypoplasia tapetoretinal degeneration 12.1
110 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 12.0
111 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 12.0
112 spastic quadriplegia, retinitis pigmentosa, and mental retardation 12.0
113 deafness, cataract, retinitis pigmentosa, and sperm abnormalities 11.9
114 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 11.9
115 retinitis pigmentosa 80 11.9
116 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 11.9
117 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 11.9
118 vitreoretinochoroidopathy 11.9
119 pallidal degeneration, progressive, with retinitis pigmentosa 11.9
120 retinitis pigmentosa inversa with deafness 11.9
121 microcephaly, retinitis pigmentosa, and sutural cataract 11.9
122 skeletal dysplasia, rhizomelic, with retinitis pigmentosa 11.9
123 retinitis pigmentosa 81 11.9
124 dwarfism deafness retinitis pigmentosa 11.9
125 retinitis pigmentosa 2, x-linked 11.9
126 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 11.9
127 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 11.9
128 hardikar syndrome 11.9
129 oculoauricular syndrome 11.9
130 cone-rod dystrophy 16 11.8
131 microphthalmia, isolated 5 11.7
132 leber congenital amaurosis 14 11.7
133 cone-rod dystrophy 7 11.7
134 leber congenital amaurosis 13 11.6
135 cone-rod dystrophy 15 11.6
136 leber congenital amaurosis 3 11.5
137 usher syndrome, type iia 11.5
138 flynn-aird syndrome 11.5
139 retinopathy, pericentral pigmentary, autosomal recessive 11.5
140 cone-rod dystrophy 6 11.5
141 cone-rod dystrophy 9 11.5
142 refsum disease, classic 11.5
143 spondylometaphyseal dysplasia, axial 11.3
144 usher syndrome, type iiia 11.3
145 cone-rod dystrophy 1 11.2
146 chromosome xp11.3 deletion syndrome 11.2
147 late-onset retinal degeneration 11.2
148 trnt1 deficiency 11.2
149 leber congenital amaurosis 9 11.2 CRB1 CRX RDH12 RPE65 TULP1
150 abetalipoproteinemia 11.2
151 bardet-biedl syndrome 8 11.2
152 usher syndrome type 2 11.2
153 senior-loken syndrome 1 11.2
154 usher syndrome, type ic 11.1
155 usher syndrome, type id 11.1
156 usher syndrome, type ig 11.1
157 achromatopsia 3 11.1 CRB1 CRX RPE65 TULP1
158 leber congenital amaurosis 15 11.1
159 usher syndrome, type iiib 11.1
160 usher syndrome, type ij 11.1
161 peripheral retinal degeneration 11.1 PRPH2 ROM1 RPGR
162 aldred syndrome 11.0
163 prolonged electroretinal response suppression 11.0 CRB1 CRX PRPH2
164 vitreoretinopathy, neovascular inflammatory 11.0
165 congenital disorder of glycosylation, type ia 11.0
166 homocarnosinosis 11.0
167 peroxisome biogenesis disorder 1b 11.0
168 usher syndrome, type if 11.0
169 cranioectodermal dysplasia 3 11.0
170 cranioectodermal dysplasia 4 11.0
171 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.0
172 macular dystrophy, patterned, 3 11.0
173 ataxia with vitamin e deficiency 11.0
174 autosomal dominant congenital stationary night blindness 10.9 PDE6B RHO
175 stargardt macular degeneration 10.9 PRPH2 RHO
176 bile acid synthesis defect, congenital, 4 10.9
177 retinal dystrophy, juvenile cataracts, and short stature syndrome 10.9
178 butterfly-shaped pigment dystrophy 10.9 PRPH2 ROM1
179 macular dystrophy, concentric annular 10.8
180 macular dystrophy, patterned, 1 10.8
181 retinopathy, pericentral pigmentary, dominant 10.8
182 bardet-biedl syndrome 1 10.8
183 bietti crystalline corneoretinal dystrophy 10.8
184 epiphyseal dysplasia, microcephaly, and nystagmus 10.8
185 laurence-moon syndrome 10.8
186 nephronophthisis 1 10.8
187 cone-rod dystrophy, x-linked, 3 10.8
188 cone-rod dystrophy, x-linked, 1 10.8
189 cone-rod dystrophy 5 10.8
190 cone-rod dystrophy 3 10.8
191 bardet-biedl syndrome 6 10.8
192 cone-rod dystrophy 13 10.8
193 cone-rod dystrophy 10 10.8
194 cone-rod dystrophy 11 10.8
195 usher syndrome, type ih 10.8
196 cone-rod dystrophy 12 10.8
197 cranioectodermal dysplasia 2 10.8
198 alpha-methylacyl-coa racemase deficiency 10.8
199 usher syndrome, type ik 10.8
200 cone-rod dystrophy 18 10.8
201 cone-rod dystrophy 19 10.8
202 cone-rod dystrophy 20 10.8
203 bardet-biedl syndrome 7 10.8
204 bardet-biedl syndrome 13 10.8
205 bardet-biedl syndrome 14 10.8
206 bardet-biedl syndrome 17 10.8
207 bardet-biedl syndrome 18 10.8
208 bardet-biedl syndrome 19 10.8
209 cone-rod dystrophy 21 10.8
210 cold-induced sweating syndrome 3 10.8
211 bardet-biedl syndrome 20 10.8
212 cone-rod dystrophy and hearing loss 10.8
213 charcot-marie-tooth disease type 7 10.8
214 cytomegalovirus retinitis 10.8
215 hereditary night blindness 10.8
216 alezzandrini syndrome 10.8
217 refsum disease, infantile form 10.8
218 spastic paraplegia 10 10.8
219 cancer-associated retinopathy 10.8 RHO TULP1
220 red-green color blindness 10.5 RHO RPE65
221 hydrops, lactic acidosis, and sideroblastic anemia 10.5
222 macular retinal edema 10.5
223 melioidosis 10.4
224 ataxia and polyneuropathy, adult-onset 10.4
225 radin blood group antigen 10.3
226 cataract 10.3
227 choroiditis 10.2
228 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
229 posterior column ataxia 10.2
230 choroideremia 10.2
231 night blindness 10.1
232 uveitis 10.1
233 aging 10.1
234 branchiootic syndrome 1 10.1
235 nephronophthisis 10.0
236 neuropathy 10.0
237 blood group, i system 10.0
238 bardet-biedl syndrome 2 10.0
239 myopia 10.0
240 coloboma of macula 9.9
241 coats disease 9.9
242 body mass index quantitative trait locus 11 9.9
243 body mass index quantitative trait locus 9 9.9
244 body mass index quantitative trait locus 8 9.9
245 body mass index quantitative trait locus 4 9.9
246 body mass index quantitative trait locus 10 9.9
247 body mass index quantitative trait locus 7 9.9
248 body mass index quantitative trait locus 12 9.9
249 body mass index quantitative trait locus 14 9.9
250 body mass index quantitative trait locus 18 9.9
251 bardet-biedl syndrome 10 9.9
252 bardet-biedl syndrome 11 9.9
253 bardet-biedl syndrome 12 9.9
254 mucopolysaccharidosis-plus syndrome 9.9
255 primary ciliary dyskinesia 9.9
256 ciliopathy 9.9
257 blepharophimosis 9.9
258 interstitial nephritis 9.9
259 bardet-biedl syndrome 9.9
260 macular holes 9.9
261 neuronitis 9.9
262 fuchs' heterochromic uveitis 9.9
263 cataract 32, multiple types 9.8
264 noonan syndrome 1 9.8
265 trichomegaly 9.8
266 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8
267 gyrate atrophy of choroid and retina 9.8
268 popliteal pterygium syndrome, lethal type 9.8
269 pseudoxanthoma elasticum 9.8
270 oliver-mcfarlane syndrome 9.8
271 vitamin e, familial isolated deficiency of 9.8
272 muscular dystrophy, duchenne type 9.8
273 polydactyly 9.8
274 leber congenital amaurosis 5 9.8
275 microvascular complications of diabetes 5 9.8
276 alacrima, achalasia, and mental retardation syndrome 9.8
277 hypobetalipoproteinemia, familial, 1 9.8
278 chronic granulomatous disease 9.8
279 diabetes mellitus 9.8
280 brachydactyly 9.8
281 fanconi syndrome 9.8
282 microcephaly 9.8
283 intermediate uveitis 9.8
284 dementia 9.8
285 polyneuropathy 9.8
286 neuronal ceroid lipofuscinosis 9.8
287 hypogonadism 9.8
288 phimosis 9.8
289 muscular dystrophy 9.8
290 central serous chorioretinopathy 9.8
291 charles bonnet syndrome 9.8
292 pseudo-turner syndrome 9.8
293 skeletal dysplasias 9.8
294 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 9.8
295 seizures, benign familial neonatal, 1 9.7
296 zimmermann-laband syndrome 1 9.7
297 fibrosis of extraocular muscles, congenital, 1 9.7
298 hemifacial atrophy, progressive 9.7
299 marfan syndrome 9.7
300 neurofibromatosis, type iv, of riccardi 9.7
301 optic nerve hypoplasia, bilateral 9.7
302 pigmented paravenous chorioretinal atrophy 9.7
303 peutz-jeghers syndrome 9.7
304 exfoliation syndrome 9.7
305 pulmonary hemosiderosis 9.7
306 retinal cone dystrophy 1 9.7
307 retinal detachment 9.7
308 rheumatoid arthritis 9.7
309 schizophrenia 9.7
310 sturge-weber syndrome 9.7
311 celiac disease 1 9.7
312 cerebellar hypoplasia 9.7
313 neurodegeneration with brain iron accumulation 1 9.7
314 mckusick-kaufman syndrome 9.7
315 vici syndrome 9.7
316 cholestasis, benign recurrent intrahepatic, 1 9.7
317 miller-dieker lissencephaly syndrome 9.7
318 mucopolysaccharidosis, type iiic 9.7
319 myoclonic epilepsy of lafora 9.7
320 myoclonic epilepsy of unverricht and lundborg 9.7
321 oguchi disease 1 9.7
322 mcleod syndrome 9.7
323 mucopolysaccharidosis, type ii 9.7
324 retinoschisis 1, x-linked, juvenile 9.7
325 hyperinsulinemic hypoglycemia, familial, 3 9.7
326 focal segmental glomerulosclerosis 1 9.7
327 microvascular complications of diabetes 1 9.7
328 major depressive disorder 9.7
329 hyperinsulinemic hypoglycemia, familial, 5 9.7
330 hyperinsulinemic hypoglycemia, familial, 4 9.7
331 mevalonic aciduria 9.7
332 diabetes mellitus, ketosis-prone 9.7
333 microvascular complications of diabetes 2 9.7
334 occult macular dystrophy 9.7
335 polyglucosan body myopathy 1 with or without immunodeficiency 9.7
336 alopecia 9.7
337 arthritis 9.7
338 common variable immunodeficiency 9.7
339 focal segmental glomerulosclerosis 9.7
340 hematopoietic stem cell transplantation 9.7
341 hepatitis 9.7
342 ichthyosis lamellar 1 9.7
343 keratoconus 9.7
344 leukemia 9.7
345 mucopolysaccharidosis iii 9.7
346 retinal vein occlusion 9.7
347 thalassemia 9.7
348 aniseikonia 9.7
349 lissencephaly 9.7
350 weill-marchesani syndrome 9.7
351 posterior polar cataract 9.7
352 small cell carcinoma 9.7
353 autosomal dominant disease 9.7
354 sensorineural hearing loss 9.7
355 neuroretinitis 9.7
356 steatorrhea 9.7
357 spastic quadriplegia 9.7
358 lens subluxation 9.7
359 exotropia 9.7
360 autonomic neuropathy 9.7
361 hemosiderosis 9.7
362 quadriplegia 9.7
363 branch retinal artery occlusion 9.7
364 hyperinsulinemic hypoglycemia 9.7
365 congenital toxoplasmosis 9.7
366 optic disk drusen 9.7
367 cholestasis 9.7
368 primary angle-closure glaucoma 9.7
369 hypophosphatasia 9.7
370 scleromalacia perforans 9.7
371 foster-kennedy syndrome 9.7
372 hypothyroidism 9.7
373 papilledema 9.7
374 ichthyosis 9.7
375 retinal vascular occlusion 9.7
376 epilepsy 9.7
377 intrahepatic cholestasis 9.7
378 hyperinsulinism 9.7
379 osteochondrodysplasia 9.7
380 acromegaly 9.7
381 central retinal vein occlusion 9.7
382 cervicitis 9.7
383 cutis laxa 9.7
384 central nervous system disease 9.7
385 pseudohypoparathyroidism 9.7
386 pituitary gland disease 9.7
387 kidney disease 9.7
388 panic disorder 9.7
389 leber hereditary optic neuropathy 9.7
390 thyroiditis 9.7
391 situs inversus 9.7
392 retinal artery occlusion 9.7
393 nervous system disease 9.7
394 lupus erythematosus 9.7
395 chorioretinitis 9.7
396 amyloidosis 9.7
397 iridocyclitis 9.7
398 hypopituitarism 9.7
399 bronchiectasis 9.7
400 dextrocardia 9.7
401 vitreous detachment 9.7
402 toxoplasmosis 9.7
403 hypoglycemia 9.7
404 albinism 9.7
405 myotonic dystrophy 9.7
406 polycystic kidney disease 9.7
407 congenital hepatic fibrosis 9.7
408 sickle cell disease 9.7
409 x-linked congenital stationary night blindness 9.7
410 cerebellar degeneration 9.7
411 cutis verticis gyrata 9.7
412 deafness enamel hypoplasia nail defects 9.7
413 glioma 9.7
414 goldmann-favre syndrome 9.7
415 growth hormone deficiency 9.7
416 hypoaldosteronism 9.7
417 myotonia atrophica 9.7
418 optic pathway glioma 9.7
419 rud syndrome 9.7
420 weber syndrome 9.7
421 autonomic dysfunction 9.7
422 dysautonomia 9.7
423 hypoxia 9.7
424 myotonia 9.7
425 spasticity 9.7
426 nevus of ota 9.7
427 zimmermann-laband syndrome 9.7
428 discoid lupus erythematosus 9.7
429 essential iris atrophy 9.7

Graphical network of the top 20 diseases related to Retinitis Pigmentosa:



Diseases related to Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa

Symptoms via clinical synopsis from OMIM:

53
Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
fundal pigment lumps


Clinical features from OMIM:

268000

Human phenotypes related to Retinitis Pigmentosa:

55 31 (showing 30, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000613
2 ophthalmoplegia 55 31 frequent (33%) Frequent (79-30%) HP:0000602
3 obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001513
4 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
5 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
6 hyperreflexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001347
7 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
8 type ii diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0005978
9 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
10 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
11 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
12 visual impairment 55 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000505
13 optic atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000648
14 abnormality of retinal pigmentation 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007703
15 blindness 55 31 hallmark (90%) Very frequent (99-80%) HP:0000618
16 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
17 hyperinsulinemia 55 31 frequent (33%) Frequent (79-30%) HP:0000842
18 atypical scarring of skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000987
19 nyctalopia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000662
20 abnormality of the retinal vasculature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008046
21 hypogonadism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000135
22 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
23 abnormality of the testis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000035
24 conductive hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000405
25 hypoplasia of penis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008736
26 abnormality of color vision 55 31 frequent (33%) Frequent (79-30%) HP:0000551
27 keratoconus 55 31 frequent (33%) Frequent (79-30%) HP:0000563
28 progressive night blindness 55 31 hallmark (90%) Very frequent (99-80%) HP:0007675
29 rod-cone dystrophy 31 HP:0000510
30 constriction of peripheral visual field 31 HP:0001133

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

43 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 CLRN1 CRB1 CRX MERTK PDE6A PDE6B
2 cardiovascular system MP:0005385 9.96 RHO ROM1 RP1 RPGR SNRNP200 TULP1
3 pigmentation MP:0001186 9.61 CRB1 CRX MERTK PDE6B PRPH2 RHO
4 vision/eye MP:0005391 9.53 CERKL CLRN1 CRB1 CRX MERTK PDE6A

Drugs & Therapeutics for Retinitis Pigmentosa

Drugs for Retinitis Pigmentosa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 116, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 127-40-2 6433159
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 68-26-8, 11103-57-4 445354
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
4 Tocopherol Approved, Investigational, Nutraceutical Phase 3
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
6
B-Carotene Approved, Nutraceutical Phase 2, Phase 3,Phase 1 7235-40-7 5280489
7 Antioxidants Phase 3,Phase 2,Phase 1
8 Bone Density Conservation Agents Phase 3
9 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
10 Protective Agents Phase 3,Phase 2,Phase 1
11 Retinol palmitate Phase 3,Phase 1
12 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
13 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
14 Tocopherols Phase 3
15 Tocotrienols Phase 3
16 Antihypertensive Agents Phase 3,Phase 1,Phase 2
17 Carotenoids Phase 2, Phase 3,Phase 1
18 alpha-MSH Phase 2, Phase 3
19 Hormone Antagonists Phase 2, Phase 3
20 Hormones Phase 2, Phase 3
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
22 Isopropyl unoprostone Phase 3
23 retinol Nutraceutical Phase 3,Phase 1
24 Tocotrienol Investigational, Nutraceutical Phase 3 6829-55-6
25
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
26
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
27
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
28
Iodine Approved, Investigational Phase 2,Phase 1 7553-56-2 807
29
Povidone Approved Phase 2,Phase 1 9003-39-8
30
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
31
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
32
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
33
Carbidopa Approved Phase 2 28860-95-9 38101 34359
34
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
35
Levodopa Approved Phase 2 59-92-7 6047
36
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
37
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
38 Autonomic Agents Phase 1, Phase 2
39 Mitogens Phase 1, Phase 2
40 Nasal Decongestants Phase 1, Phase 2
41 Ophthalmic Solutions Phase 1, Phase 2
42 Peripheral Nervous System Agents Phase 1, Phase 2
43 Pharmaceutical Solutions Phase 1, Phase 2
44 Respiratory System Agents Phase 1, Phase 2
45 Tetrahydrozoline Phase 1, Phase 2
46 Vasoconstrictor Agents Phase 1, Phase 2
47 Anti-Infective Agents Phase 1, Phase 2
48 cadexomer iodine Phase 2,Phase 1
49 Proxymetacaine Phase 2,Phase 1
50 Anticonvulsants Phase 2
51 Antimanic Agents Phase 2
52 Central Nervous System Depressants Phase 2
53 GABA Agents Phase 2
54 Neurotransmitter Agents Phase 2,Phase 1
55 Psychotropic Drugs Phase 2
56 Tranquilizing Agents Phase 2
57 Anti-Bacterial Agents Phase 1, Phase 2
58 Adrenergic Agents Phase 1, Phase 2
59 Adrenergic Agonists Phase 1, Phase 2
60 Adrenergic alpha-2 Receptor Agonists Phase 1, Phase 2
61 Adrenergic alpha-Agonists Phase 1, Phase 2
62 Brimonidine Tartrate Phase 1, Phase 2 70359-46-5
63 Adjuvants, Immunologic Phase 2,Phase 1
64 Antiparkinson Agents Phase 2
65 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
66 Carbidopa, levodopa drug combination Phase 2
67 Dihydroxyphenylalanine Phase 2
68 Dopamine Agents Phase 2
69 Dopamine agonists Phase 2
70 Anesthetics Phase 2,Phase 1
71 Antiviral Agents Phase 1, Phase 2
72 Antiemetics Phase 2
73 Anti-Inflammatory Agents Phase 2
74 Antineoplastic Agents, Hormonal Phase 2
75 BB 1101 Phase 2
76 Dexamethasone acetate Phase 2 1177-87-3
77 Gastrointestinal Agents Phase 2
78 glucocorticoids Phase 2
79 HIV Protease Inhibitors Phase 2
80
protease inhibitors Phase 2
81 Interferon-gamma Phase 1, Phase 2
82 interferons Phase 1, Phase 2
83 Omega 3 Fatty Acid Nutraceutical Phase 2
84 Soy Bean Nutraceutical Phase 2
85 Goji Nutraceutical Phase 2
86 Lycium Nutraceutical Phase 2
87
Tropicamide Approved, Investigational Phase 1 1508-75-4 5593
88
Acetylcysteine Approved, Investigational Phase 1 616-91-1 12035
89
acetic acid Approved, Nutraceutical Phase 1 64-19-7 176
90
Retinol acetate Phase 1 127-47-9 10245972
91 Antidotes Phase 1
92 Expectorants Phase 1
93 N-monoacetylcystine Phase 1
94 Lecithin Nutraceutical Phase 1
95 cysteine Nutraceutical Phase 1
96
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
97
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
98
Pyridoxal Approved, Nutraceutical 66-72-8 1050
99
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
100
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
101
Folic Acid Approved, Nutraceutical, Vet_approved Early Phase 1 59-30-3 6037
102 Antifungal Agents
103 Antirheumatic Agents
104 Calcineurin Inhibitors
105 Cyclosporins
106 Dermatologic Agents
107 Immunosuppressive Agents
108 Vitamin B 6
109 Ubiquinone
110 Liver Extracts
111 Vitamin B Complex Early Phase 1
112 Lemon Balm Nutraceutical
113 arginine Nutraceutical
114 Folate Nutraceutical Early Phase 1
115 Ginkgo Nutraceutical Early Phase 1
116 Vitamin B9 Nutraceutical Early Phase 1

Interventional clinical trials:

(showing 145, show less)

# Name Status NCT ID Phase Drugs
1 The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction Completed NCT00717080 Phase 4
2 Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A Completed NCT00346333 Phase 3 Lutein
3 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
4 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
5 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
6 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
7 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Not yet recruiting NCT03184584 Phase 2, Phase 3 PBI-4050
8 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3 UF-021;Placebo
9 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
10 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Unknown status NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
11 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Unknown status NCT02739217 Phase 2 PBI-4050
12 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
13 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
14 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
15 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
16 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Completed NCT02320812 Phase 1, Phase 2
17 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
18 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
19 Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema Completed NCT02609165 Phase 2 rhNGF 180 µg/ml eye drops solution;vehicle eye drops
20 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
21 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
22 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2 400 µg Brimonidine Tartrate Implant;200 µg Brimonidine Tartrate Implant;100 µg Brimonidine Tartrate Implant
23 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
24 Feasibility Study of a Chronic Retinal Stimulator in Retinitis Pigmentosa Completed NCT00279500 Phase 1, Phase 2
25 Gene Therapy for Blindness Caused by Choroideremia Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
26 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
27 Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum Recruiting NCT02244996 Phase 2
28 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2 hRPC
29 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 1, Phase 2
30 Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03252847 Phase 1, Phase 2
31 Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR-ORF15 Mutations Recruiting NCT03316560 Phase 1, Phase 2
32 Safety and Efficacy Study in Patients With Retinitis Pigmentosa Due to Mutations in PDE6B Gene Recruiting NCT03328130 Phase 1, Phase 2
33 RST-001 Phase I/II Trial for Advanced Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2 RST-001
34 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
35 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Recruiting NCT03073733 Phase 2
36 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
37 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Active, not recruiting NCT02661711 Phase 2 Aflibercept
38 Electro-acupuncture and Transcorneal Electrical Stimulation (TES) for the Treatment of Vision Loss Due to Retinitis Pigmentosa Active, not recruiting NCT02086890 Phase 1, Phase 2
39 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2 NT-501
40 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
41 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2
42 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Enrolling by invitation NCT02804360 Phase 2
43 A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Enrolling by invitation NCT02065011 Phase 1, Phase 2 UshStat
44 Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Not yet recruiting NCT03326336 Phase 1, Phase 2
45 A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa Not yet recruiting NCT03374657 Phase 1, Phase 2
46 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
47 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
48 Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa Completed NCT02280135 Phase 1
49 Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa Completed NCT01604356 Phase 1
50 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01068561 Phase 1
51 Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa Completed NCT00065455 Phase 1 Vitamin A
52 Oral QLT091001 in Retinitis Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65) Completed NCT01543906 Phase 1 QLT091001
53 Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye Completed NCT00063765 Phase 1 Ciliary Neurotrophic Factor Implant NT-501
54 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1 QLT091001
55 Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations Completed NCT01014052 Phase 1 QLT091001
56 The FIGHT-RP1 Study Recruiting NCT03063021 Phase 1 N-Acetyl Cysteine (NAC)
57 Retinal Imaging in Patients With Inherited Retinal Degenerations Recruiting NCT00254605 Phase 1
58 Trial of Ocular Subretinal Injection of a Recombinant Adeno-Associated Virus (rAAV2-VMD2-hMERTK) Gene Vector to Patients With Retinal Disease Due to MERTK Mutations Recruiting NCT01482195 Phase 1
59 Feasibility and Safety of Human Bone Marrow-derived Mesenchymal Stem Cells by Intravitreal Injection in Patients With Retinitis Pigmentosa Enrolling by invitation NCT01531348 Phase 1
60 Clinical Trial of Autologous Intravitreal Bone-marrow CD34+ Stem Cells for Retinopathy Enrolling by invitation NCT01736059 Phase 1 CD34+ bone marrow stem cells intravitreal
61 A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa Terminated NCT00458575 Phase 1 CNTO 2476
62 Autoimmunity in Retinitis Pigmentosa Unknown status NCT00433277 twice-daily dosage with 0.5% cyclosporine-A eyedrops
63 Identifying Genes and Mutations Underlying Retinitis Pigmentosa and Allied Diseases Unknown status NCT02309866
64 Observational Study of the Argus® II Retinal Prosthesis System Unknown status NCT01999049
65 IRIS PILOT - Extended Pilot Study With a Retinal Implant System Unknown status NCT00427180
66 Visual and Functional Assessment in Low Vision Patients Unknown status NCT01876147
67 Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe Unknown status NCT01954953
68 Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes Completed NCT01235624
69 Biomarkers In Retinitis Pigmentosa (BIRP) Completed NCT01949623
70 Transcorneal Electrostimulation for Therapy of Retinitis Pigmentosa Completed NCT01837901
71 TES for the Treatment of RP Completed NCT01847365
72 Stress and Vision Fluctuations in Retinitis Pigmentosa Completed NCT00475254 Early Phase 1
73 Slowing the Degenerative Process, Long Lasting Effect of Hyperbaric Oxygen Therapy in Retinitis Pigmentosa Completed NCT00461435
74 Effectiveness of a Cognitive-behavioral Program of Coping With Psychological Stress in People With Retinitis Pigmentosa Completed NCT03368027
75 Study of Docosahexaenoic Acid (DHA) Supplementation in Patients With X-Linked Retinitis Pigmentosa Completed NCT00004827 docosahexaenoic acid
76 Transcorneal Electrical Stimulation - Multicenter Safety Study Completed NCT01835002
77 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions im Patients With Retinitis Pigmentosa Completed NCT01256697
78 Evaluation of Objective Perimetry Using Pupillometer Completed NCT01021982
79 Safety and Efficacy of the Alpha AMS Subretinal Implant Completed NCT02720640
80 Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT Completed NCT02575430
81 Study of the Correlation Between Macular Thickness Analyzed by Optical Coherence Tomography and the Visual Functions in Retinitis Pigmemtosa Completed NCT00784901
82 Safety & Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients Completed NCT01497379
83 Molecular Genetics of Retinal Degenerations Completed NCT00231010
84 AUgmented REality for the Visually Impaired - Part 1 Completed NCT02614651
85 Retina Implant Pilot Trial to Evaluate Safety & Efficacy in Blind Patients Having Degenerated Photo-receptors Completed NCT00515814
86 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
87 Study of Usher Syndromes, Type 1 and Type 2 Completed NCT00001347
88 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
89 Pilot Study of a Suprachoroidal Retinal Prosthesis Completed NCT01603576
90 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy Completed NCT01864486
91 Microcurrent Stimulation to Treat Macular Degeneration Completed NCT01790958
92 A Genetic Analysis of Usher Syndrome in Ashkenazi Jews Completed NCT00016471
93 Characteristics and Risk Ratios of Late Intraocular Lens (IOL) Complication Completed NCT02747667
94 Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
95 Transcorneal Electrical Stimulation Therapy for Retinal Disease Completed NCT00804102
96 Family Myopia Study Completed NCT00341549
97 Normal Human Electro-Oculogram Completed NCT00001610
98 Potential Research Participants for Future Studies of Inherited Eye Diseases Completed NCT00559234
99 Validation of the GATE Software Completed NCT01265628
100 Vitamin Replacement in Abetalipoproteinemia Completed NCT00004574
101 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
102 Nutritional Assessment in Mitochondrial Cytopathy Completed NCT02375438
103 Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing. Recruiting NCT02860520
104 Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial Recruiting NCT02759952
105 Clinical Evaluation of Patients With X-linked Retinitis Pigmentosa (XLRP) Recruiting NCT03314207
106 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
107 Development of Visual Function Evaluation Method Recruiting NCT03281005
108 Argus II Retinal Prosthesis System - Better Vision RP Study Recruiting NCT03418116
109 Argus II/ORCAM Device Study Recruiting NCT03248388
110 Post-Market Study of the Argus® II Retinal Prosthesis System - France Recruiting NCT02303288
111 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078
112 CAREN Argus Rehab (CARE) Study Recruiting NCT03444961
113 New Enrollment Post-Approval Study of the Argus® II Retinal Prosthesis System Recruiting NCT01860092
114 Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer Recruiting NCT02014389
115 Argus® II Retinal Prosthesis System Post-Market Surveillance Study Recruiting NCT01490827
116 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
117 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
118 Clinical Study of a Single Ciliopathy: Alström Syndrome Recruiting NCT02890550
119 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
120 High Resolution Retinal Imaging Recruiting NCT01866371
121 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
122 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
123 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
124 Evaluation of Retinal Structure With High Resolution Optical Coherence Tomography (OCT) Recruiting NCT00564291
125 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Active, not recruiting NCT02670980
126 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743
127 Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients Active, not recruiting NCT01024803
128 Clinical and Genetic Testing of Patients With Usher Syndrome Active, not recruiting NCT03319524
129 Argus II Retinal Prosthesis System Dry AMD Feasibility Study Protocol Active, not recruiting NCT02227498
130 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953
131 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
132 Rod Sensitivity in Age-related Macular Degeneration (AMD) and Retinitis Pigmentosa (RP) Enrolling by invitation NCT03322930
133 Clinical & Community Approaches to Weight Management Enrolling by invitation NCT03012126
134 Post-Marketing Surveillance of Patients Using the Subretinal Retina Implant Alpha Enrolling by invitation NCT02588430
135 Study of a Suprachoroidal Retinal Prosthesis Enrolling by invitation NCT03406416
136 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
137 Clinical Trials of Continuous Oxygen Therapy Combined With Blue Light Deprivation in the Treatment of Retinitis Pigmentosa Not yet recruiting NCT02465749 Early Phase 1 Continuous oxygen;Compound thrombosis capsule sig: 1.5g/tid;Ginkgo biloba pills sig: 300mg/tid;;Vitamin B sig: 10mg/tid;Vitamin AD sig: 1 tablet/tid
138 The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients Not yet recruiting NCT03078309 Early Phase 1 cannabis
139 Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa - a Safety and Efficacy Multicenter Study Not yet recruiting NCT02548572
140 Exercise and RP (AVAMC and Emory) Not yet recruiting NCT03381235
141 Collision Warning Device for Blind and Visually Impaired Not yet recruiting NCT03057496
142 Repository for Inherited Eye Diseases Suspended NCT00378742
143 Observational Natural History Study of Autosomal Dominant Retinitis Pigmentosa (adRP) Terminated NCT02926092
144 Evoked Retinal Response Terminated NCT01415453
145 Study of Dietary N-3 Fatty Acids in Patients With Retinitis Pigmentosa and Usher Syndrome Terminated NCT00004345

Search NIH Clinical Center for Retinitis Pigmentosa

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Retinitis Pigmentosa cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: retinitis pigmentosa

Genetic Tests for Retinitis Pigmentosa

Genetic tests related to Retinitis Pigmentosa:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 28 AIPL1 ARL6 C8orf37 CLRN1 CNGA1 CRX LRAT PDE6G RBP3 ROM1

Anatomical Context for Retinitis Pigmentosa

MalaCards organs/tissues related to Retinitis Pigmentosa:

38
Retina, Bone, Eye, Testes, Bone Marrow, Skin, Testis
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Retinitis Pigmentosa:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Outer Nuclear Layer Cone Precursor Cells Potential therapeutic candidate, affected by disease
2 Eye Outer Nuclear Layer Mature L Cone Cells Potential therapeutic candidate, affected by disease
3 Eye Outer Nuclear Layer Mature M Cone Cells Potential therapeutic candidate, affected by disease
4 Eye Outer Nuclear Layer Mature M-S Cone Cells Potential therapeutic candidate, affected by disease
5 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
6 Eye Outer Nuclear Layer Mature Rod Cells Potential therapeutic candidate, affected by disease
7 Eye Outer Nuclear Layer Mature S Cone Cells Potential therapeutic candidate, affected by disease
8 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease
9 Eye Outer Nuclear Layer Rod Precursor Cells Potential therapeutic candidate, affected by disease

Publications for Retinitis Pigmentosa

Articles related to Retinitis Pigmentosa:

(showing 1481, show less)
# Title Authors Year
1
Nonclinical Safety Evaluation of scAAV8-<i>RLBP1</i>for Treatment of<i>RLBP1</i>Retinitis Pigmentosa. ( 29359172 )
2018
2
A novel mutation in<i>PRPF31</i>, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer. ( 29375987 )
2018
3
Improved retinal and visual function following panmacular subthreshold diode micropulse laser for retinitis pigmentosa. ( 29449615 )
2018
4
Quantification of Macular Microvascular Changes in Patients With Retinitis Pigmentosa Using Optical Coherence Tomography Angiography. ( 29365150 )
2018
5
Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa. ( 29345014 )
2018
6
Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi. ( 29377744 )
2018
7
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa. ( 29437494 )
2018
8
Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa. ( 29411010 )
2018
9
Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa. ( 29305715 )
2018
10
Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing. ( 29437900 )
2018
11
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ( 29192808 )
2018
12
highroad Is a Carboxypetidase Induced by Retinoids to Clear Mutant Rhodopsin-1 in Drosophila Retinitis Pigmentosa Models. ( 29425495 )
2018
13
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa. ( 29411205 )
2018
14
Rasagiline delays retinal degeneration in a mouse model of retinitis pigmentosa via modulation of Bax/Bcl-2 expression. ( 29372592 )
2018
15
Coping strategies, vision-related quality of life, and emotional health in managing retinitis pigmentosa: a survey study. ( 29378559 )
2018
16
Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa. ( 29188504 )
2018
17
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. ( 29425069 )
2018
18
HIF-1I+ stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa. ( 29295858 )
2018
19
Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations. ( 28763560 )
2017
20
Subluxated intraocular lens secondary toA retinitis pigmentosa-associated zonulopathy: August consultation #1. ( 28917417 )
2017
21
Survival analysis of visual improvement after cataract surgery in advanced retinitis pigmentosa. ( 28776592 )
2017
22
Identification of a disease-causing mutation in a Chinese patient with retinitis pigmentosa by targeted next-generation sequencing. ( 28430325 )
2017
23
Risk Factors for Posterior Subcapsular Cataract in Retinitis Pigmentosa. ( 28492871 )
2017
24
KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa. ( 29032201 )
2017
25
Retrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging. ( 28871101 )
2017
26
Dark-Adapted Chromatic Perimetry for Measuring Rod Visual Fields in Patients with Retinitis Pigmentosa. ( 28798898 )
2017
27
Optical Coherence Tomography Angiography to Estimate Retinal Blood Flow in Eyes with Retinitis Pigmentosa. ( 28406171 )
2017
28
Improving graph-based OCT segmentation for severe pathology in Retinitis Pigmentosa patients. ( 28781413 )
2017
29
Posterior microphthalmos, retinitis pigmentosa and optic disc drusen with white dots. A case report. ( 28511857 )
2017
30
Protective effect of sulforaphane against retinal degeneration in the Pde6(rd10) mouse model of retinitis pigmentosa. ( 28937835 )
2017
31
Transcorneal electrical stimulation for the treatment of retinitis pigmentosa: results from the TESOLAUK trial. ( 29354722 )
2017
32
Absence of Sigma 1 Receptor Accelerates Photoreceptor Cell Death in a Murine Model of Retinitis Pigmentosa. ( 28877319 )
2017
33
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. ( 28763557 )
2017
34
Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention. ( 27913439 )
2017
35
Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. ( 29111861 )
2017
36
Seeing through their eyes: lived experiences of people with retinitis pigmentosa. ( 28085147 )
2017
37
Four-year nationwide incidence of retinitis pigmentosa in South Korea: a population-based retrospective study from 2011 to 2014. ( 28490561 )
2017
38
Restoration of Cone Photoreceptor Function in Retinitis Pigmentosa. ( 28900578 )
2017
39
A Nine-Year Follow-Up of Macular Complications in Retinitis Pigmentosa and Diabetes Mellitus. ( 28419400 )
2017
40
Retinal pigmentary changes in chronic uveitis mimicking retinitis pigmentosa. ( 28523457 )
2017
41
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data. ( 28290600 )
2017
42
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. ( 28766925 )
2017
43
Cystoid Macular Edema in Retinitis Pigmentosa with Intermediate Uveitis Responded Well to Oral and Posterior Subtenon Steroid. ( 28353369 )
2017
44
Retinitis Pigmentosa Sine Pigmento Mimicking a Chiasm Disease. ( 29344059 )
2017
45
Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation. ( 28003964 )
2017
46
The unusual association of inverse retinitis pigmentosa and Fuchs' heterochromic iridocyclitis. ( 28127443 )
2017
47
Bilateral blindness with secondary retinitis pigmentosa following postoperative docetaxel and platinum combination chemotherapy in primary small-cell carcinoma of the endometrium: An unusual case report and review of the literature. ( 28413652 )
2017
48
Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing. ( 29260190 )
2017
49
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. ( 28053051 )
2017
50
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement. ( 28192796 )
2017
51
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. ( 28863407 )
2017
52
Gene panel sequencing in Brazilian patients with retinitis pigmentosa. ( 28912962 )
2017
53
ERG and other discriminators between advanced hydroxychloroquine retinopathy and retinitis pigmentosa. ( 28451987 )
2017
54
Flavonoid allosteric modulation of mutated visual rhodopsin associated with retinitis pigmentosa. ( 28894166 )
2017
55
Mathematical models of retinitis pigmentosa: The oxygen toxicity hypothesis. ( 28483568 )
2017
56
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. ( 28412069 )
2017
57
Role of the sigma-1 receptor chaperone in rod and cone photoreceptor degenerations in a mouse model of retinitis pigmentosa. ( 28927431 )
2017
58
Reduced Central Retinal Artery Blood Flow Is Related to Impaired Central Visual Function in Retinitis Pigmentosa Patients. ( 28910168 )
2017
59
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. ( 28076437 )
2017
60
Retinitis pigmentosa: an unusual ocular manifestation in a patient with neurofibromatosis type 1. ( 28906094 )
2017
61
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. ( 28442542 )
2017
62
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients. ( 28456785 )
2017
63
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for theA NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. ( 29054413 )
2017
64
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression. ( 28324114 )
2017
65
A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa. ( 28453362 )
2017
66
Genetic rescue models refute nonautonomous rod cell death in retinitis pigmentosa. ( 28468800 )
2017
67
Loss of the cone-enriched<i>caspase-7</i>does not affect secondary cone death in retinitis pigmentosa. ( 29296074 )
2017
68
A novel MERTK mutation causing retinitis pigmentosa. ( 28462455 )
2017
69
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. ( 28512305 )
2017
70
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States. ( 28549094 )
2017
71
Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation. ( 27768226 )
2017
72
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. ( 28209709 )
2017
73
Retinitis Pigmentosa Associated with Glucose-6-Phosphate Dehydrogenase Deficiency. ( 28948126 )
2017
74
Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa. ( 27028480 )
2017
75
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. ( 28056120 )
2017
76
Structure-function correlations in Retinitis Pigmentosa patients with partially preserved vision: a voxel-based morphometry study. ( 28900214 )
2017
77
Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa. ( 28419563 )
2017
78
A Case of Unilateral Retinitis Pigmentosa Associated with Full Thickness Macular Hole. ( 28936059 )
2017
79
Early Microglia Activation Precedes Photoreceptor Degeneration in a Mouse Model of CNGB1-Linked Retinitis Pigmentosa. ( 29354133 )
2017
80
Type 3 Neovascularization Associated with Retinitis Pigmentosa. ( 28512428 )
2017
81
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa. ( 28045043 )
2017
82
Opposing Effects of Valproic Acid Treatment Mediated by Histone Deacetylase Inhibitor Activity in Four Transgenic X. laevis Models of Retinitis Pigmentosa. ( 28490005 )
2017
83
Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models. ( 28814713 )
2017
84
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. ( 28794130 )
2017
85
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. ( 28678594 )
2017
86
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects. ( 29276052 )
2017
87
PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family. ( 28848678 )
2017
88
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations. ( 28095071 )
2017
89
CHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS. ( 27658286 )
2016
90
Intravitreal Dexamethasone Implant (Ozurdex) for Refractory Macular Edema Secondary to Retinitis Pigmentosa. ( 28058154 )
2016
91
Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa. ( 27323122 )
2016
92
A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics. ( 27933220 )
2016
93
Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa. ( 26853529 )
2016
94
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. ( 26964041 )
2016
95
Concurrent retinitis pigmentosa and pigmented paravenous retinochoroidal atrophy phenotypes in the same patient. ( 27905344 )
2016
96
Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. ( 27176872 )
2016
97
Increased Prevalence of Flammer Syndrome in Patients with Retinitis Pigmentosa. ( 27116506 )
2016
98
Ultra-wide Field Fluorescein Angiography in Retinitis Pigmentosa with Intermediate Uveitis. ( 27413510 )
2016
99
Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family. ( 26802146 )
2016
100
Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa. ( 26794436 )
2016
101
Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations. ( 27911705 )
2016
102
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa. ( 26781568 )
2016
103
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. ( 27392078 )
2016
104
Course of Ocular Function in PRPF31 Retinitis Pigmentosa. ( 26959129 )
2016
105
Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing. ( 27764769 )
2016
106
Limited ATF4 Expression in Degenerating Retinas with Ongoing ER Stress Promotes Photoreceptor Survival in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa. ( 27144303 )
2016
107
Unilateral Macular Star in a Case of Hypertension and Retinitis Pigmentosa. ( 27128810 )
2016
108
The bacterial toxin CNF1 as a tool to induce retinal degeneration reminiscent of retinitis pigmentosa. ( 27775019 )
2016
109
Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome. ( 27145477 )
2016
110
Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa. ( 26427449 )
2016
111
Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. ( 27082927 )
2016
112
Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. ( 27633571 )
2016
113
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. ( 26927203 )
2016
114
MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA. ( 27575413 )
2016
115
Corrigendum: The bacterial toxin CNF1 as a tool to induce retinal degeneration reminiscent of retinitis pigmentosa. ( 27934895 )
2016
116
Interpretation of Flood-Illuminated Adaptive Optics Images in Subjects with Retinitis Pigmentosa. ( 26427424 )
2016
117
Relative Difficulties of Daily Living Tasks with Retinitis Pigmentosa. ( 28033161 )
2016
118
Efficacy of valproic acid for retinitis pigmentosa patients: a pilot study. ( 27536054 )
2016
119
Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations. ( 27654411 )
2016
120
Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa. ( 27715390 )
2016
121
Clinical presentation and visual status of retinitis pigmentosa patients: a multicenter study in southwestern Nigeria. ( 27601870 )
2016
122
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. ( 26806561 )
2016
123
Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa. ( 27081294 )
2016
124
Substantial modifications to retinal architecture occur prior to photoreceptor cell loss in the rd10 mouse model of retinitis pigmentosa. ( 27160072 )
2016
125
Complication of Autologous Stem Cell Transplantation in Retinitis Pigmentosa. ( 27149677 )
2016
126
Presence of a Triple Concentric Autofluorescence Ring in NR2E3-p.G56R-Linked Autosomal Dominant Retinitis Pigmentosa (ADRP). ( 27096758 )
2016
127
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy. ( 27548899 )
2016
128
Structural analysis of retinal photoreceptor ellipsoid zone and postreceptor retinal layer associated with visual acuity in patients with retinitis pigmentosa by ganglion cell analysis combined with OCT imaging. ( 28033301 )
2016
129
A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa. ( 27122965 )
2016
130
MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA. ( 28005673 )
2016
131
CRISPR repair reveals causative mutation in a preclinical model of retinitis pigmentosa. ( 27203441 )
2016
132
Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy. ( 27164451 )
2016
133
Inner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure. ( 27564720 )
2016
134
Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene. ( 27820873 )
2016
135
A case of hyperhomocysteinemia with retinitis pigmentosa - A rare presentation. ( 27728730 )
2016
136
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa. ( 26908613 )
2016
137
Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7. ( 26887858 )
2016
138
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. ( 27596865 )
2016
139
Subretinal adipose tissue-derived mesenchymal stem cell implantation in advanced stage retinitis pigmentosa: a phase I clinical safety study. ( 27906070 )
2016
140
A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa. ( 27655171 )
2016
141
SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. ( 26854980 )
2016
142
Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing. ( 27391953 )
2016
143
DYNAMIC AND STATIC VESSEL ANALYSIS IN PATIENTS WITH RETINITIS PIGMENTOSA: A Pilot Study of Vascular Diameters and Functionality. ( 27627747 )
2016
144
Quantifying the metabolic contribution to photoreceptor death in retinitis pigmentosa via a mathematical model. ( 27519951 )
2016
145
Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa. ( 27516389 )
2016
146
Retinitis Pigmentosa Mutations in Bad Response to Refrigeration 2 (Brr2) Impair ATPase and Helicase Activity. ( 27072132 )
2016
147
Distinguishing optic pathway glioma and retinitis pigmentosa with visual field testing. ( 27316291 )
2016
148
Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa. ( 27889058 )
2016
149
Subtenon triamcinolone for cystoid macular edema due to retinitis pigmentosa unresponsive to oral acetazolamide. ( 27521675 )
2016
150
Efficacy of PARP inhibition in Pde6a mutant mouse models for retinitis pigmentosa depends on the quality and composition of individual human mutations. ( 27551530 )
2016
151
Mutations in AGBL5, Encoding I+-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. ( 27842159 )
2016
152
In Vivo Evidence of Inner Retinal Neurodegeneration in Retinitis Pigmentosa Using Spectral-Domain Optical Coherence Tomography. ( 27631478 )
2016
153
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45. ( 26901671 )
2016
154
Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene. ( 26894652 )
2016
155
Increased aqueous flare is associated with thickening of inner retinal layers in eyes with retinitis pigmentosa. ( 27653207 )
2016
156
Alterations in glutamate cysteine ligase content in the retina of two retinitis pigmentosa animal models. ( 27140233 )
2016
157
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP). ( 26427411 )
2016
158
The synthetic progestin norgestrel acts to increase LIF levels in the rd10 mouse model of retinitis pigmentosa. ( 27081297 )
2016
159
Histopathological Changes of Inner Retina, Optic Disc, and Optic Nerve in Rabbit with Advanced Retinitis Pigmentosa. ( 27928420 )
2016
160
Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. ( 27102970 )
2016
161
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual. ( 26962691 )
2016
162
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. ( 27391550 )
2016
163
Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa. ( 27917291 )
2016
164
Novel mutations in PDE6B causing human retinitis pigmentosa. ( 27588261 )
2016
165
EPIRETINAL MEMBRANE FORMATION AFTER INTRAVITREAL AUTOLOGOUS STEM CELL IMPLANTATION IN A RETINITIS PIGMENTOSA PATIENT. ( 27171917 )
2016
166
Association Between Aqueous Flare and Epiretinal Membrane in Retinitis Pigmentosa. ( 27548902 )
2016
167
Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa. ( 27212874 )
2016
168
Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa. ( 27769321 )
2016
169
Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia. ( 27995965 )
2016
170
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. ( 26843489 )
2016
171
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases. ( 26910043 )
2016
172
Wide-Field Fundus Autofluorescence for Retinitis Pigmentosa and Cone/Cone-Rod Dystrophy. ( 26427426 )
2016
173
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. ( 26900326 )
2016
174
A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies. ( 27564722 )
2016
175
Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23. ( 26878454 )
2016
176
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. ( 26740549 )
2016
177
Opposing effects of valproic acid treatment mediated by histone deacetylase inhibitor activity in four transgenic X. laevis models of retinitis pigmentosa. ( 27940988 )
2016
178
Ultra-wide field imaging of retinal haemangioma in retinitis pigmentosa. ( 27553894 )
2016
179
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. ( 26261414 )
2015
180
Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa. ( 25670491 )
2015
181
Emerging Treatments for Retinitis Pigmentosa: Genes and stem cells, as well as new electronic and medical therapies, are gaining ground. ( 26503895 )
2015
182
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. ( 26494905 )
2015
183
Whole Exome Sequencing Reveals ZNF408 as a New Gene Associated With Autosomal Recessive Retinitis Pigmentosa with Vitreal Alterations. ( 25882705 )
2015
184
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. ( 25802487 )
2015
185
Bilateral cystoid macular edema following docetaxel chemotherapy in a patient with retinitis pigmentosa: a case report. ( 25885440 )
2015
186
RECURRENT CENTRAL SEROUS CHORIORETINOPATHY ASSOCIATED WITH RETINITIS PIGMENTOSA TREATED WITH CARBONIC ANHYDRASE INHIBITORS. ( 26510001 )
2015
187
Charles Bonnet Syndrome in Advanced Retinitis Pigmentosa. ( 25870080 )
2015
188
Posterior capsule opacity in Retinitis Pigmentosa according to different biomaterials of intraocular lenses: Our clinical experience. ( 26550807 )
2015
189
Molecular screening of the LPCAT1 gene in patients with retinitis pigmentosa without defined mutations in known retinitis pigmentosa genes. ( 26260533 )
2015
190
Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations. ( 25491159 )
2015
191
CNTF gene therapy confers lifelong neuroprotection in a mouse model of human retinitis pigmentosa. ( 25896245 )
2015
192
Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa. ( 25783483 )
2015
193
Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus. ( 24555744 )
2015
194
Quality of life in patients with retinitis pigmentosa submitted to intravitreal use of bone marrow-derived stem cells (Reticell -clinical trial). ( 25890251 )
2015
195
Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. ( 26358772 )
2015
196
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. ( 25776555 )
2015
197
Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing. ( 25569437 )
2015
198
Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing. ( 26075273 )
2015
199
Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families. ( 26321862 )
2015
200
Effect of Purified Murine NGF on Isolated Photoreceptors of a Rodent Developing Retinitis Pigmentosa. ( 25897972 )
2015
201
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features. ( 25447119 )
2015
202
Retinitis pigmentosa with concomitant essential iris atrophy and glaucoma - case report. ( 26648683 )
2015
203
Activated mTORC1 promotes long-term cone survival in retinitis pigmentosa mice. ( 25798619 )
2015
204
Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations. ( 25827439 )
2015
205
Quantification of the Visual Field Loss in Retinitis Pigmentosa Using Semi-Automated Kinetic Perimetry. ( 26470834 )
2015
206
AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. ( 25965394 )
2015
207
Difficulties with goals of the Dutch ICF Activity Inventory: perceptions of those with Retinitis Pigmentosa and of those who support them. ( 25766586 )
2015
208
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. ( 26147992 )
2015
209
Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa. ( 25265376 )
2015
210
Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. ( 25422369 )
2015
211
Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network. ( 25749990 )
2015
212
Targeted next-generation sequencing reveals novel EYS mutations in Chinese families with autosomal recessive retinitis pigmentosa. ( 25753737 )
2015
213
A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa. ( 26918098 )
2015
214
Impact of Whole Exome Sequencing among Iranian Patients with Autosomal Recessive Retinitis Pigmentosa. ( 26497376 )
2015
215
Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population. ( 26246154 )
2015
216
Comparison of topical dorzolamide and ketorolac treatment for cystoid macular edema in retinitis pigmentosa and Usher's syndrome. ( 25428176 )
2015
217
X-Linked Retinitis Pigmentosa 2 Is a Novel Maternal-Effect Gene Required for Left-Right Asymmetry in Zebrafish. ( 26134862 )
2015
218
Spectral-domain optical coherence tomography reveals prelaminar membranes in optic nerve head pallor in eyes with retinitis pigmentosa. ( 25900815 )
2015
219
Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa. ( 26216097 )
2015
220
Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa. ( 25556114 )
2015
221
Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. ( 25255364 )
2015
222
Charles Bonnet syndrome in an 88-year-old woman with retinitis pigmentosa. ( 25583394 )
2015
223
Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa. ( 26164827 )
2015
224
SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa. ( 26459573 )
2015
225
Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration. ( 25616964 )
2015
226
Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene. ( 26431479 )
2015
227
Peripapillary retinal vessel diameter correlates with mfERG alterations in retinitis pigmentosa. ( 25809154 )
2015
228
Metabolic and functional changes in retinitis pigmentosa: comparing retinal vessel oximetry to full-field electroretinography, electrooculogram and multifocal electroretinography. ( 26490228 )
2015
229
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. ( 25541840 )
2015
230
Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice. ( 26383048 )
2015
231
Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa. ( 26558903 )
2015
232
Modeling of autosomal-dominant retinitis pigmentosa in Caenorhabditis elegans uncovers a nexus between global impaired functioning of certain splicing factors and cell type-specific apoptosis. ( 26490224 )
2015
233
Endothelin-1 Plasma Levels in Patients with both Retinitis Pigmentosa and Flammer Syndrome. ( 25902111 )
2015
234
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). ( 25859010 )
2015
235
Human iPSC derived disease model of MERTK-associated retinitis pigmentosa. ( 26263531 )
2015
236
Correlation of SD-OCT findings and visual function in patients with retinitis pigmentosa. ( 26472300 )
2015
237
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness. ( 26022370 )
2015
238
Towards an assistive peripheral visual prosthesis for long-term treatment of retinitis pigmentosa: evaluating mobility performance in immersive simulations. ( 25782059 )
2015
239
A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa. ( 25477324 )
2015
240
Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families. ( 26720455 )
2015
241
A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. ( 26574802 )
2015
242
Exclusion of the unfolded protein response in light-induced retinal degeneration in the canine T4R RHO model of autosomal dominant retinitis pigmentosa. ( 25695253 )
2015
243
Using the rd1 mouse to understand functional and anatomical retinal remodeling and treatment implications in retinitis pigmentosa: A review. ( 26521764 )
2015
244
Is There Excess Oxidative Stress and Damage in Eyes of Patients with Retinitis Pigmentosa? ( 25820114 )
2015
245
Docosahexaenoic Acid Slows Visual Field Progression in X-Linked Retinitis Pigmentosa: Ancillary Outcomes of the DHAX Trial. ( 26469750 )
2015
246
A Case Report of Vogt's Limbal Girdle and Retinitis Pigmentosa in a Thirteen-Year-Old Boy: A Rare and Unusual Association. ( 26483674 )
2015
247
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. ( 25883087 )
2015
248
Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa. ( 25383878 )
2014
249
Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa. ( 25352746 )
2014
250
FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa. ( 24664697 )
2014
251
ET-1 plasma levels, choroidal thickness and multifocal electroretinogram in retinitis pigmentosa. ( 24735956 )
2014
252
A novel mutation in C5L2 gene was associated with hyperlipidemia and retinitis pigmentosa in a Chinese family. ( 24885523 )
2014
253
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11. ( 24916380 )
2014
254
Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes. ( 24618324 )
2014
255
Advances in gene therapy technologies to treat retinitis pigmentosa. ( 24391438 )
2014
256
A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing. ( 24969741 )
2014
257
Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. ( 25385675 )
2014
258
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. ( 24737827 )
2014
259
Gene Augmentation for X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR. ( 25301933 )
2014
260
PRPF4 Mutations Cause Autosomal Dominant Retinitis Pigmentosa. ( 24419317 )
2014
261
IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. ( 24876279 )
2014
262
Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation. ( 24454928 )
2014
263
Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa. ( 25221422 )
2014
264
A Pro23His mutation alters prenatal rod photoreceptor morphology in a transgenic swine model of retinitis pigmentosa. ( 24618321 )
2014
265
Recent Advances in Treatment of Retinitis Pigmentosa. ( 25345673 )
2014
266
Mutation analysis of Leber congenital amaurosisa89associated genes in patients with retinitis pigmentosa. ( 25377065 )
2014
267
A Missense Mutation in HK1 Leads to Autosomal Dominant Retinitis Pigmentosa. ( 25316723 )
2014
268
Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa. ( 24940031 )
2014
269
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. ( 25324289 )
2014
270
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. ( 25190649 )
2014
271
Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa. ( 24651477 )
2014
272
Hexokinase 1 and retinitis pigmentosa: insights into the retina and the molecule. ( 25381353 )
2014
273
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family. ( 24520187 )
2014
274
SLC7A14 linked to autosomal recessive retinitis pigmentosa. ( 24670872 )
2014
275
Chlorogenic Acid supplementation improves multifocal electroretinography in patients with retinitis pigmentosa. ( 24431915 )
2014
276
A novel one-base insertion mutation in the retinitis pigmentosa 2 gene in a large X-linked Taiwanese family. ( 24479636 )
2014
277
Development and evaluation of a visual aid using see-through display for patients with retinitis pigmentosa. ( 25352068 )
2014
278
Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa. ( 25274813 )
2014
279