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 57 38 12 76 53 25 59 75 37 29 55 6 44 15 40 73
Rod-Cone Dystrophy 53 25 75 6
Rp 57 53 25 75
Retinitis Pigmentosa 1 44 73
Retinitis Pigmentosa, Autosomal Recessive 40
Retinitis Pigmentosa Autosomal Recessive 75
Pericentral Pigmentary Retinopathy 12
Non-Syndromic Retinitis Pigmentosa 75
Tapetoretinal Degeneration 25
Pigmentary Retinopathy 25
Dystrophy, Cone-Rod 40
Cone Rod Dystrophy 59
Arrp 75
Rcd 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive most frequent, autosomal dominant next, and x-linked recessive least frequent


Classifications:

Orphanet: 59  
Rare eye diseases


Summaries for Retinitis Pigmentosa

OMIM : 57 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 rod-cone dystrophy, is related to cone-rod dystrophy 2 and retinitis pigmentosa 1. 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 obesity and nystagmus

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include... more...

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 439, show less)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 36.5 ABCA4 CERKL CRB1 CRX EYS PRPH2
2 retinitis pigmentosa 1 36.2 PRPH2 RHO RP1
3 retinitis 36.1 CERKL EYS PRPH2 RHO RP1 RPGR
4 retinitis pigmentosa 7 36.1 PRPH2 RHO ROM1
5 retinitis pigmentosa 19 36.1 ABCA4 CNGA1 PDE6B
6 retinitis pigmentosa 43 36.1 PDE6A PDE6B RHO
7 leber congenital amaurosis 4 35.7 CRX PDE6A RPE65
8 retinitis pigmentosa 38 35.6 MERTK RPE65
9 usher syndrome, type i 35.3 CLRN1 RHO USH2A
10 nonsyndromic retinitis pigmentosa 35.2 CLRN1 USH2A
11 fundus dystrophy 34.8 ABCA4 CERKL CNGA1 CRB1 CRX EYS
12 leber congenital amaurosis 34.7 ABCA4 CRB1 CRX MERTK PDE6A PDE6B
13 usher syndrome, type iic 34.6 CLRN1 CRB1 PDE6A PDE6B USH2A
14 retinal degeneration 34.6 ABCA4 CRB1 CRX PDE6B PRPH2 RHO
15 usher syndrome, type iid 34.5 RHO RPGR USH2A
16 usher syndrome 34.4 CLRN1 RPGR USH2A
17 usher syndrome type 2 34.2 CLRN1 EYS USH2A
18 macular dystrophy, concentric annular 34.1 ABCA4 CRX
19 stargardt disease 33.9 ABCA4 CRB1 EYS MERTK PRPH2 RHO
20 retinal disease 33.8 ABCA4 CRB1 CRX PDE6B PRPH2 RHO
21 macular degeneration, age-related, 1 33.4 ABCA4 CRB1 PDE6B PRPH2 RHO RPE65
22 macular dystrophy, dominant cystoid 32.7 CRB1 PDE6A
23 congenital stationary night blindness 32.6 ABCA4 PDE6B RHO RPE65
24 fundus albipunctatus 32.5 PDE6B PRPH2 RHO RPE65
25 night blindness 32.5 PDE6B RHO RPE65
26 optic disk drusen 31.3 CRB1 RHO
27 newfoundland rod-cone dystrophy 12.7
28 retinitis pigmentosa 3 12.5
29 neuropathy, ataxia, and retinitis pigmentosa 12.5
30 posterior column ataxia with retinitis pigmentosa 12.5
31 retinitis pigmentosa 2 12.5
32 retinitis pigmentosa 4 12.4
33 retinitis pigmentosa 9 12.4
34 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.4
35 retinitis pigmentosa 17 12.4
36 retinitis pigmentosa 13 12.4
37 retinitis pigmentosa 28 12.4
38 retinitis pigmentosa 27 12.4
39 retinitis pigmentosa 45 12.4
40 retinitis pigmentosa-deafness syndrome 12.4
41 retinitis pigmentosa 50 12.4
42 retinitis pigmentosa 11 12.3
43 retinitis pigmentosa 14 12.3
44 retinitis pigmentosa 67 12.3
45 retinitis pigmentosa 69 12.3
46 retinitis pigmentosa 12 12.3
47 retinitis pigmentosa 18 12.3
48 retinitis pigmentosa 25 12.3
49 retinitis pigmentosa 30 12.3
50 retinitis pigmentosa 26 12.3
51 retinitis pigmentosa 31 12.3
52 retinitis pigmentosa 35 12.3
53 retinitis pigmentosa 33 12.3
54 retinitis pigmentosa 36 12.3
55 retinitis pigmentosa 41 12.3
56 retinitis pigmentosa 46 12.3
57 retinitis pigmentosa 57 12.3
58 retinitis pigmentosa 20 12.3
59 hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration 12.3
60 retinitis pigmentosa 10 12.3
61 retinitis pigmentosa 23 12.3
62 retinitis pigmentosa 42 12.3
63 retinitis pigmentosa 51 12.3
64 retinitis pigmentosa 55 12.3
65 retinitis pigmentosa 58 12.3
66 retinitis pigmentosa 49 12.3
67 retinitis pigmentosa 47 12.3
68 retinitis pigmentosa 44 12.3
69 retinitis pigmentosa 48 12.3
70 retinitis pigmentosa 59 12.3
71 retinitis pigmentosa 60 12.3
72 retinitis pigmentosa 62 12.3
73 retinitis pigmentosa with or without situs inversus 12.3
74 retinitis pigmentosa 37 12.3
75 retinitis pigmentosa 54 12.3
76 retinitis pigmentosa 56 12.3
77 retinitis pigmentosa 40 12.3
78 retinitis pigmentosa 39 12.3
79 retinitis pigmentosa 61 12.3
80 retinitis pigmentosa 66 12.3
81 retinitis pigmentosa 68 12.3
82 retinitis pigmentosa 70 12.3
83 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 12.3
84 retinitis pigmentosa 75 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 skeletal anomalies 12.3
89 retinitis pigmentosa 74 12.3
90 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 12.3
91 retinitis pigmentosa 76 12.2
92 retinitis pigmentosa 79 12.2
93 retinitis pigmentosa 81 12.2
94 retinitis pigmentosa 6 12.2
95 retinitis pigmentosa 22 12.2
96 retinitis pigmentosa 32 12.2
97 retinitis pigmentosa 29 12.2
98 retinitis pigmentosa 77 12.2
99 retinitis pigmentosa 78 12.2
100 retinitis pigmentosa and erythrocytic microcytosis 12.2
101 retinitis pigmentosa 80 12.2
102 retinitis pigmentosa, late-adult onset 12.2
103 retinitis pigmentosa 24 12.2
104 retinitis pigmentosa 34 12.2
105 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction 12.2
106 retinitis pigmentosa, y-linked 12.2
107 retinitis pigmentosa 63 12.2
108 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 12.2
109 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.2
110 mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration 12.2
111 tapetoretinal degeneration with ataxia 12.1
112 cerebellar hypoplasia tapetoretinal degeneration 12.1
113 yemenite deaf-blind hypopigmentation syndrome 12.0 ABCA4 RHO RPE65 RPGR USH2A
114 muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus 12.0
115 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 12.0
116 spastic quadriplegia, retinitis pigmentosa, and mental retardation 12.0
117 vitreoretinochoroidopathy 11.9
118 deafness, cataract, retinitis pigmentosa, and sperm abnormalities 11.9
119 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 11.9
120 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 11.9
121 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 11.9
122 rhyns syndrome 11.9
123 stargardt disease 1 11.9 ABCA4 CRX RHO ROM1
124 pallidal degeneration, progressive, with retinitis pigmentosa 11.9
125 retinitis pigmentosa inversa with deafness 11.9
126 microcephaly, retinitis pigmentosa, and sutural cataract 11.9
127 skeletal dysplasia, rhizomelic, with retinitis pigmentosa 11.9
128 dwarfism deafness retinitis pigmentosa 11.9
129 retinitis pigmentosa 2, x-linked 11.9
130 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 11.9
131 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 11.9
132 prolonged electroretinal response suppression 11.9 ABCA4 CRB1 CRX PRPH2
133 retinoschisis 1, x-linked, juvenile 11.9 CRB1 CRX RPE65 RPGR
134 leber congenital amaurosis 9 11.9 CRB1 CRX RPE65 TULP1
135 hardikar syndrome 11.9
136 achromatopsia 3 11.9 CRB1 CRX RPE65 TULP1
137 oculoauricular syndrome 11.8
138 cone-rod dystrophy 16 11.8
139 trehalase deficiency 11.8 CRB1 MERTK PDE6A RP1 USH2A
140 stargardt macular degeneration 11.8 ABCA4 PRPH2 RHO
141 microphthalmia, isolated 5 11.7
142 peripheral retinal degeneration 11.7 PRPH2 ROM1 RPGR
143 red-green color blindness 11.7 ABCA4 RHO RPE65
144 leber congenital amaurosis 14 11.7
145 leber congenital amaurosis 13 11.7
146 degeneration of macula and posterior pole 11.7 ABCA4 RHO RPE65
147 cone-rod dystrophy 7 11.7
148 cone-rod dystrophy 15 11.6
149 leber congenital amaurosis 3 11.5
150 severe early-childhood-onset retinal dystrophy 11.5 ABCA4 RPE65
151 autosomal dominant congenital stationary night blindness 11.5 PDE6B RHO
152 usher syndrome, type iia 11.5
153 flynn-aird syndrome 11.5
154 retinopathy, pericentral pigmentary, autosomal recessive 11.5
155 cone-rod dystrophy 6 11.5
156 cone-rod dystrophy 9 11.5
157 butterfly-shaped pigment dystrophy 11.4 PRPH2 ROM1
158 refsum disease, classic 11.4
159 kearns-sayre syndrome 11.4
160 bestrophinopathy 11.3 PRPH2 RPE65
161 bardet-biedl syndrome 11.3
162 spondylometaphyseal dysplasia, axial 11.3
163 cone-rod dystrophy 1 11.2
164 usher syndrome, type iiia 11.2
165 choroid disease 11.2 RPE65 RPGR
166 chromosome xp11.3 deletion syndrome 11.2
167 late-onset retinal degeneration 11.2
168 trnt1 deficiency 11.2
169 abetalipoproteinemia 11.2
170 senior-loken syndrome 1 11.2
171 usher syndrome, type ic 11.1
172 usher syndrome, type id 11.1
173 usher syndrome, type ig 11.1
174 leber congenital amaurosis 15 11.1
175 usher syndrome, type iiib 11.1
176 usher syndrome, type ij 11.1
177 cancer-associated retinopathy 11.1 RHO TULP1
178 aldred syndrome 11.0
179 vitreoretinopathy, neovascular inflammatory 11.0
180 congenital disorder of glycosylation, type ia 11.0
181 cranioectodermal dysplasia 1 11.0
182 homocarnosinosis 11.0
183 peroxisome biogenesis disorder 1b 11.0
184 usher syndrome, type if 11.0
185 cranioectodermal dysplasia 3 11.0
186 cranioectodermal dysplasia 4 11.0
187 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 11.0
188 macular dystrophy, patterned, 3 11.0
189 ataxia with vitamin e deficiency 11.0
190 bile acid synthesis defect, congenital, 4 10.9
191 retinal dystrophy, juvenile cataracts, and short stature syndrome 10.9
192 hypoparathyroidism, sensorineural deafness, and renal disease 10.8
193 macular dystrophy, patterned, 1 10.8
194 retinopathy, pericentral pigmentary, dominant 10.8
195 bardet-biedl syndrome 1 10.8
196 bietti crystalline corneoretinal dystrophy 10.8
197 epiphyseal dysplasia, microcephaly, and nystagmus 10.8
198 laurence-moon syndrome 10.8
199 nephronophthisis 1 10.8
200 cone-rod dystrophy, x-linked, 3 10.8
201 cone-rod dystrophy, x-linked, 1 10.8
202 cone-rod dystrophy 5 10.8
203 cone-rod dystrophy 3 10.8
204 bardet-biedl syndrome 6 10.8
205 cone-rod dystrophy 13 10.8
206 cone-rod dystrophy 10 10.8
207 cone-rod dystrophy 11 10.8
208 usher syndrome, type ih 10.8
209 cone-rod dystrophy 12 10.8
210 cranioectodermal dysplasia 2 10.8
211 alpha-methylacyl-coa racemase deficiency 10.8
212 usher syndrome, type ik 10.8
213 cone-rod dystrophy 18 10.8
214 cone-rod dystrophy 19 10.8
215 cone-rod dystrophy 20 10.8
216 bardet-biedl syndrome 7 10.8
217 bardet-biedl syndrome 8 10.8
218 bardet-biedl syndrome 13 10.8
219 bardet-biedl syndrome 14 10.8
220 bardet-biedl syndrome 17 10.8
221 bardet-biedl syndrome 18 10.8
222 bardet-biedl syndrome 19 10.8
223 cone-rod dystrophy 21 10.8
224 crisponi/cold-induced sweating syndrome 3 10.8
225 bardet-biedl syndrome 20 10.8
226 cone-rod dystrophy and hearing loss 10.8
227 charcot-marie-tooth disease type 7 10.8
228 cytomegalovirus retinitis 10.8
229 hereditary night blindness 10.8
230 alezzandrini syndrome 10.8
231 biemond syndrome 10.8
232 refsum disease, infantile form 10.8
233 spastic paraplegia 10 10.8
234 macular retinal edema 10.5
235 melioidosis 10.4
236 cataract 10.3
237 choroiditis 10.3
238 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
239 posterior column ataxia 10.2
240 choroideremia 10.2
241 uveitis 10.1
242 aging 10.1
243 neuropathy 10.1
244 nephronophthisis 10.0
245 myopia 10.0
246 neuronitis 10.0
247 fuchs' heterochromic uveitis 10.0
248 coats disease 9.9
249 bardet-biedl syndrome 2 9.9
250 bardet-biedl syndrome 10 9.9
251 bardet-biedl syndrome 11 9.9
252 bardet-biedl syndrome 12 9.9
253 primary ciliary dyskinesia 9.9
254 blepharophimosis 9.9
255 interstitial nephritis 9.9
256 microcephaly 9.9
257 hypogonadism 9.9
258 macular holes 9.9
259 noonan syndrome 1 9.8
260 trichomegaly 9.8
261 gyrate atrophy of choroid and retina 9.8
262 pseudoxanthoma elasticum 9.8
263 oliver-mcfarlane syndrome 9.8
264 vitamin e, familial isolated deficiency of 9.8
265 muscular dystrophy, duchenne type 9.8
266 polydactyly 9.8
267 microvascular complications of diabetes 5 9.8
268 alacrima, achalasia, and mental retardation syndrome 9.8
269 hypobetalipoproteinemia, familial, 1 9.8
270 achromatopsia 9.8
271 chronic granulomatous disease 9.8
272 diabetes mellitus 9.8
273 ichthyosis lamellar 1 9.8
274 brachydactyly 9.8
275 fanconi syndrome 9.8
276 intermediate uveitis 9.8
277 dementia 9.8
278 polyneuropathy 9.8
279 primary angle-closure glaucoma 9.8
280 neuronal ceroid lipofuscinosis 9.8
281 ichthyosis 9.8
282 epilepsy 9.8
283 phimosis 9.8
284 muscular dystrophy 9.8
285 type i 9.8
286 central serous chorioretinopathy 9.8
287 charles bonnet syndrome 9.8
288 myotonia atrophica 9.8
289 pseudo-turner syndrome 9.8
290 skeletal dysplasias 9.8
291 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 9.8
292 diabetes mellitus, noninsulin-dependent 9.7
293 zimmermann-laband syndrome 1 9.7
294 hemifacial atrophy, progressive 9.7
295 marfan syndrome 9.7
296 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.7
297 neurofibromatosis, type i 9.7
298 neurofibromatosis, type iv, of riccardi 9.7
299 optic nerve hypoplasia, bilateral 9.7
300 pigmented paravenous chorioretinal atrophy 9.7
301 peutz-jeghers syndrome 9.7
302 exfoliation syndrome 9.7
303 pulmonary hemosiderosis 9.7
304 retinal detachment 9.7
305 rheumatoid arthritis 9.7
306 schizophrenia 9.7
307 spondyloepimetaphyseal dysplasia, strudwick type 9.7
308 sturge-weber syndrome 9.7
309 celiac disease 1 9.7
310 cerebellar hypoplasia 9.7
311 macular dystrophy, corneal 9.7
312 neurodegeneration with brain iron accumulation 1 9.7
313 mckusick-kaufman syndrome 9.7
314 vici syndrome 9.7
315 cholestasis, benign recurrent intrahepatic, 1 9.7
316 miller-dieker lissencephaly syndrome 9.7
317 mucopolysaccharidosis, type iiic 9.7
318 myoclonic epilepsy of lafora 9.7
319 myoclonic epilepsy of unverricht and lundborg 9.7
320 leigh syndrome 9.7
321 oguchi disease 1 9.7
322 3-methylglutaconic aciduria, type iii 9.7
323 mcleod syndrome 9.7
324 mucopolysaccharidosis, type ii 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 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.7
330 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.7
331 hyperinsulinemic hypoglycemia, familial, 5 9.7
332 hyperinsulinemic hypoglycemia, familial, 4 9.7
333 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.7
334 mevalonic aciduria 9.7
335 diabetes mellitus, ketosis-prone 9.7
336 microvascular complications of diabetes 2 9.7
337 occult macular dystrophy 9.7
338 polyglucosan body myopathy 1 with or without immunodeficiency 9.7
339 alopecia 9.7
340 arthritis 9.7
341 common variable immunodeficiency 9.7
342 focal segmental glomerulosclerosis 9.7
343 hematopoietic stem cell transplantation 9.7
344 hepatitis 9.7
345 keratoconus 9.7
346 leukemia 9.7
347 mucopolysaccharidosis iii 9.7
348 retinal vein occlusion 9.7
349 thalassemia 9.7
350 aniseikonia 9.7
351 lissencephaly 9.7
352 weill-marchesani syndrome 9.7
353 posterior polar cataract 9.7
354 small cell carcinoma 9.7
355 autosomal dominant disease 9.7
356 isolated ectopia lentis 9.7
357 sensorineural hearing loss 9.7
358 neuroretinitis 9.7
359 steatorrhea 9.7
360 spastic quadriplegia 9.7
361 lens subluxation 9.7
362 exotropia 9.7
363 autonomic neuropathy 9.7
364 hemosiderosis 9.7
365 chronic progressive external ophthalmoplegia 9.7
366 quadriplegia 9.7
367 branch retinal artery occlusion 9.7
368 hyperinsulinemic hypoglycemia 9.7
369 congenital toxoplasmosis 9.7
370 cholestasis 9.7
371 hypophosphatasia 9.7
372 scleromalacia perforans 9.7
373 foster-kennedy syndrome 9.7
374 hypothyroidism 9.7
375 papilledema 9.7
376 retinal vascular occlusion 9.7
377 intrahepatic cholestasis 9.7
378 optic nerve disease 9.7
379 hyperinsulinism 9.7
380 osteochondrodysplasia 9.7
381 acromegaly 9.7
382 central retinal vein occlusion 9.7
383 infantile epileptic encephalopathy 9.7
384 corneal dystrophy 9.7
385 cervicitis 9.7
386 cutis laxa 9.7
387 central nervous system disease 9.7
388 cerebritis 9.7
389 pseudohypoparathyroidism 9.7
390 pituitary gland disease 9.7
391 kidney disease 9.7
392 panic disorder 9.7
393 leber hereditary optic neuropathy 9.7
394 thyroiditis 9.7
395 situs inversus 9.7
396 retinal artery occlusion 9.7
397 nervous system disease 9.7
398 lupus erythematosus 9.7
399 chorioretinitis 9.7
400 amyloidosis 9.7
401 iridocyclitis 9.7
402 hypopituitarism 9.7
403 bronchiectasis 9.7
404 dextrocardia 9.7
405 vitreous detachment 9.7
406 toxoplasmosis 9.7
407 hypoglycemia 9.7
408 albinism 9.7
409 myotonic dystrophy 9.7
410 polycystic kidney disease 9.7
411 congenital hepatic fibrosis 9.7
412 progressive myoclonus epilepsy, lafora type 9.7
413 sickle cell disease 9.7
414 x-linked congenital stationary night blindness 9.7
415 cerebellar degeneration 9.7
416 cutis verticis gyrata 9.7
417 deafness enamel hypoplasia nail defects 9.7
418 glioma 9.7
419 goldmann-favre syndrome 9.7
420 growth hormone deficiency 9.7
421 hypoaldosteronism 9.7
422 myoclonus epilepsy 9.7
423 optic pathway glioma 9.7
424 rud syndrome 9.7
425 weber syndrome 9.7
426 color vision deficiency 9.7
427 depression 9.7
428 autonomic dysfunction 9.7
429 dysautonomia 9.7
430 hypoxia 9.7
431 myoclonus 9.7
432 myotonia 9.7
433 spasticity 9.7
434 endotheliitis 9.7
435 nevus of ota 9.7
436 zimmermann-laband syndrome 9.7
437 discoid lupus erythematosus 9.7
438 juvenile nephronophthisis 9.7
439 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:

57
Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
fundal pigment lumps


Clinical features from OMIM:

268000

Human phenotypes related to Retinitis Pigmentosa:

59 32 (showing 30, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 frequent (33%) Frequent (79-30%) HP:0001513
2 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
5 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
6 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
7 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
8 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
9 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
10 visual impairment 59 32 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000505
11 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
12 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007703
13 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
14 photophobia 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000613
15 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
16 hyperinsulinemia 59 32 frequent (33%) Frequent (79-30%) HP:0000842
17 atypical scarring of skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000987
18 nyctalopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000662
19 abnormality of the retinal vasculature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008046
20 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
21 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
22 abnormality of the testis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000035
23 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
24 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
25 abnormality of color vision 59 32 frequent (33%) Frequent (79-30%) HP:0000551
26 keratoconus 59 32 frequent (33%) Frequent (79-30%) HP:0000563
27 ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000602
28 progressive night blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007675
29 rod-cone dystrophy 32 HP:0000510
30 constriction of peripheral visual field 32 HP:0001133

GenomeRNAi Phenotypes related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

26 (showing 17, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 MERTK
2 Decreased viability GR00106-A-0 10.1 SNRNP200
3 Decreased viability GR00221-A-1 10.1 CERKL MERTK
4 Decreased viability GR00221-A-3 10.1 CERKL
5 Decreased viability GR00221-A-4 10.1 MERTK
6 Decreased viability GR00381-A-1 10.1 CLRN1 TOPORS
7 Decreased viability GR00402-S-2 10.1 PRPH2 RHO ROM1 RP1 RPE65 RPGR
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.9 EYS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.9 PDE6B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.9 EYS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.9 PDE6B
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.9 PDE6B
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.9 PDE6B
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.9 PDE6B
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.9 TOPORS
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.9 EYS PDE6B TOPORS
17 no effect GR00402-S-1 9.62 MERTK PDE6A PDE6B PRPH2 RHO ROM1

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

46 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ABCA4 CLRN1 CRB1 CRX MERTK PDE6A
2 cardiovascular system MP:0005385 10 ROM1 RP1 RPGR SNRNP200 TULP1 ABCA4
3 pigmentation MP:0001186 9.65 CRX MERTK PDE6B PRPH2 RHO RPE65
4 vision/eye MP:0005391 9.53 ABCA4 CERKL CLRN1 CRB1 CRX MERTK

Drugs & Therapeutics for Retinitis Pigmentosa

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

(showing 117, 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 11103-57-4, 68-26-8 445354
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
4
Tocopherol Approved, Investigational, Nutraceutical Phase 3 1406-66-2 14986
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
6
Beta carotene Approved, Nutraceutical Phase 2, Phase 3,Phase 1 7235-40-7
7 Hormone Antagonists Phase 2, Phase 3
8 Hormones Phase 2, Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
10 Antioxidants Phase 3,Phase 2,Phase 1
11 Bone Density Conservation Agents Phase 3
12 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
13 Protective Agents Phase 3,Phase 2,Phase 1
14 Retinol palmitate Phase 3,Phase 1
15 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
16 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
17 Tocopherols Phase 3
18 Tocotrienols Phase 3
19 Antihypertensive Agents Phase 3,Phase 1,Phase 2
20 Carotenoids Phase 2, Phase 3,Phase 1
21 alpha-MSH Phase 2, Phase 3 581-05-5
22 Isopropyl unoprostone Phase 3
23 retinol Nutraceutical Phase 3,Phase 1
24 Tocotrienol Investigational, Nutraceutical Phase 3 6829-55-6
25
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
26
Ephedrine Approved Phase 1, Phase 2,Phase 2 299-42-3 9294
27
Pseudoephedrine Approved Phase 1, Phase 2,Phase 2 90-82-4 7028
28
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
29
Iodine Approved, Investigational Phase 2,Phase 1 7553-56-2 807
30
Povidone Approved Phase 2,Phase 1 9003-39-8
31
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
32
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
33
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
34
Carbidopa Approved Phase 2 28860-95-9 34359 38101
35
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
36
Levodopa Approved Phase 2 59-92-7 6047
37
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
38 Antiemetics Phase 2
39 Anti-Inflammatory Agents Phase 2
40 Antineoplastic Agents, Hormonal Phase 2
41 Autonomic Agents Phase 2,Phase 1
42 BB 1101 Phase 2
43 Dexamethasone acetate Phase 2 1177-87-3
44 Gastrointestinal Agents Phase 2
45 glucocorticoids Phase 2
46 HIV Protease Inhibitors Phase 2
47 Peripheral Nervous System Agents Phase 2,Phase 1
48
protease inhibitors Phase 2
49 Mitogens Phase 1, Phase 2,Phase 2
50 Nasal Decongestants Phase 1, Phase 2,Phase 2
51 Ophthalmic Solutions Phase 1, Phase 2,Phase 2,Not Applicable
52 Pharmaceutical Solutions Phase 1, Phase 2,Phase 2,Not Applicable
53 Respiratory System Agents Phase 1, Phase 2,Phase 2
54 Tetrahydrozoline Phase 1, Phase 2,Phase 2,Not Applicable
55 Vasoconstrictor Agents Phase 1, Phase 2,Phase 2
56 Anti-Infective Agents Phase 1, Phase 2,Phase 2,Not Applicable
57 cadexomer iodine Phase 2,Phase 1
58 Proxymetacaine Phase 2,Phase 1
59 Anticonvulsants Phase 2
60 Antimanic Agents Phase 2
61 Central Nervous System Depressants Phase 2
62 GABA Agents Phase 2
63 Neurotransmitter Agents Phase 2,Phase 1
64 Psychotropic Drugs Phase 2
65 Tranquilizing Agents Phase 2
66 Anti-Bacterial Agents Phase 1, Phase 2
67 Adrenergic Agents Phase 1, Phase 2
68 Adrenergic Agonists Phase 1, Phase 2
69 Adrenergic alpha-2 Receptor Agonists Phase 1, Phase 2
70 Adrenergic alpha-Agonists Phase 1, Phase 2
71 Brimonidine Tartrate Phase 1, Phase 2 70359-46-5
72 Adjuvants, Immunologic Phase 2,Phase 1
73 Antiparkinson Agents Phase 2
74 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2
75 Carbidopa, levodopa drug combination Phase 2
76 Dihydroxyphenylalanine Phase 2
77 Dopamine Agents Phase 2
78 Dopamine agonists Phase 2
79 Anesthetics Phase 2,Phase 1
80 Antiviral Agents Phase 1, Phase 2
81 Interferon-gamma Phase 1, Phase 2
82 interferons Phase 1, Phase 2
83 Omega 3 Fatty Acid Nutraceutical Phase 2,Not Applicable
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 Not Applicable 22916-47-8 4189
97
Prednisone Approved, Vet_approved 53-03-2 5865
98
Ornithine Approved, Nutraceutical 70-26-8, 3184-13-2 6262
99
Pyridoxal Approved, Nutraceutical 66-72-8 1050
100
Pyridoxal Phosphate Approved, Investigational, Nutraceutical 54-47-7 1051
101
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved 65-23-6 1054
102
Folic Acid Approved, Nutraceutical, Vet_approved Early Phase 1 59-30-3 6037
103 Antifungal Agents Not Applicable
104 Antirheumatic Agents Not Applicable
105 Calcineurin Inhibitors Not Applicable
106 Cyclosporins Not Applicable
107 Dermatologic Agents Not Applicable
108 Immunosuppressive Agents Not Applicable
109 Vitamin B 6
110 Ubiquinone
111 Liver Extracts
112 Vitamin B Complex Early Phase 1
113 Lemon Balm Nutraceutical Not Applicable
114 arginine Nutraceutical
115 Folate Nutraceutical Early Phase 1
116 Ginkgo Nutraceutical Early Phase 1
117 Vitamin B9 Nutraceutical Early Phase 1

Interventional clinical trials:

(showing 150, 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 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
8 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Enrolling by invitation NCT03184584 Phase 2, Phase 3 PBI-4050
9 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3 UF-021;Placebo
10 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
11 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Unknown status NCT02804360 Phase 2
12 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
13 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
14 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
15 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
16 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
17 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Completed NCT02320812 Phase 1, Phase 2
18 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
19 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
20 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
21 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
22 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
23 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
24 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
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 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
36 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Active, not recruiting NCT02661711 Phase 2 Aflibercept
37 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
38 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Active, not recruiting NCT03073733 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 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Active, not recruiting NCT02739217 Phase 2 PBI-4050
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 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
57 The FIGHT-RP1 Study Active, not recruiting NCT03063021 Phase 1 N-Acetyl Cysteine (NAC)
58 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
59 Clinical Trial of Autologous Intravitreal Bone-marrow CD34+ Stem Cells for Retinopathy Enrolling by invitation NCT01736059 Phase 1 CD34+ bone marrow stem cells intravitreal
60 A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa Terminated NCT00458575 Phase 1 CNTO 2476
61 Autoimmunity in Retinitis Pigmentosa Unknown status NCT00433277 Not Applicable twice-daily dosage with 0.5% cyclosporine-A eyedrops
62 Identifying Genes and Mutations Underlying Retinitis Pigmentosa and Allied Diseases Unknown status NCT02309866
63 Observational Study of the Argus® II Retinal Prosthesis System Unknown status NCT01999049
64 IRIS PILOT - Extended Pilot Study With a Retinal Implant System Unknown status NCT00427180 Not Applicable
65 Visual and Functional Assessment in Low Vision Patients Unknown status NCT01876147
66 Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe Unknown status NCT01954953
67 Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes Completed NCT01235624 Not Applicable
68 Biomarkers In Retinitis Pigmentosa (BIRP) Completed NCT01949623
69 Transcorneal Electrostimulation for Therapy of Retinitis Pigmentosa Completed NCT01837901 Not Applicable
70 TES for the Treatment of RP Completed NCT01847365 Not Applicable
71 Stress and Vision Fluctuations in Retinitis Pigmentosa Completed NCT00475254
72 Slowing the Degenerative Process, Long Lasting Effect of Hyperbaric Oxygen Therapy in Retinitis Pigmentosa Completed NCT00461435 Not Applicable
73 Effectiveness of a Cognitive-behavioral Program of Coping With Psychological Stress in People With Retinitis Pigmentosa Completed NCT03368027 Not Applicable
74 Study of Docosahexaenoic Acid (DHA) Supplementation in Patients With X-Linked Retinitis Pigmentosa Completed NCT00004827 Not Applicable docosahexaenoic acid
75 Transcorneal Electrical Stimulation - Multicenter Safety Study Completed NCT01835002 Not Applicable
76 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 Not Applicable
77 Evaluation of Objective Perimetry Using Pupillometer Completed NCT01021982
78 Feasibility Study of a Chronic Retinal Stimulator in Retinitis Pigmentosa Completed NCT00279500 Not Applicable
79 Safety and Efficacy of the Alpha AMS Subretinal Implant Completed NCT02720640 Not Applicable
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 Not Applicable
83 Molecular Genetics of Retinal Degenerations Completed NCT00231010
84 AUgmented REality for the Visually Impaired - Part 1 Completed NCT02614651 Not Applicable
85 Retina Implant Pilot Trial to Evaluate Safety & Efficacy in Blind Patients Having Degenerated Photo-receptors Completed NCT00515814 Not Applicable
86 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985 Not Applicable
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 Not Applicable
90 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy Completed NCT01864486 Not Applicable
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 Not Applicable
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 Electrophysiologic HV-interval as a Predicor for Permanent Pacemaker Implantation After TAVI Completed NCT01801098
101 Vitamin Replacement in Abetalipoproteinemia Completed NCT00004574
102 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565 Not Applicable
103 Nutritional Assessment in Mitochondrial Cytopathy Completed NCT02375438
104 Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing. Recruiting NCT02860520
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 Exercise and RP (AVAMC and Emory) Recruiting NCT03381235 Not Applicable
108 Development of Visual Function Evaluation Method Recruiting NCT03281005
109 Argus II Retinal Prosthesis System - Better Vision RP Study Recruiting NCT03418116 Not Applicable
110 Argus II/ORCAM Device Study Recruiting NCT03248388 Not Applicable
111 Post-Market Study of the Argus® II Retinal Prosthesis System - France Recruiting NCT02303288
112 Rate of Progression in USH2A Related Retinal Degeneration Recruiting NCT03146078
113 CAREN Argus Rehab (CARE) Study Recruiting NCT03444961 Not Applicable
114 New Enrollment Post-Approval Study of the Argus® II Retinal Prosthesis System Recruiting NCT01860092
115 Self-confidence Study in Patients With Argus II Artificial Retina Recruiting NCT03510234
116 Retinal Imaging in Patients With Inherited Retinal Degenerations Recruiting NCT00254605
117 Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer Recruiting NCT02014389
118 Argus® II Retinal Prosthesis System Post-Market Surveillance Study Recruiting NCT01490827
119 Rod and Cone Mediated Function in Retinal Disease Recruiting NCT02617966
120 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
121 Clinical Study of a Single Ciliopathy: Alström Syndrome Recruiting NCT02890550
122 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
123 High Resolution Retinal Imaging Recruiting NCT01866371
124 Collision Warning Device for Blind and Visually Impaired Recruiting NCT03057496 Not Applicable
125 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
126 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
127 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
128 Evaluation of Retinal Structure With High Resolution Optical Coherence Tomography (OCT) Recruiting NCT00564291
129 Clinical & Community Approaches to Weight Management Active, not recruiting NCT03012126 Not Applicable
130 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Active, not recruiting NCT02670980 Not Applicable
131 Natural History and Genetic Studies of Usher Syndrome Active, not recruiting NCT00106743
132 Repository for Inherited Eye Diseases Active, not recruiting NCT00378742
133 Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients Active, not recruiting NCT01024803 Not Applicable
134 Clinical and Genetic Testing of Patients With Usher Syndrome Active, not recruiting NCT03319524
135 Argus II Retinal Prosthesis System Dry AMD Feasibility Study Protocol Active, not recruiting NCT02227498 Not Applicable
136 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953
137 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
138 Clinical Characterization on PDE6A-related Retinitis Pigmentosa in Preparation to a Gene Therapy Trial Enrolling by invitation NCT02759952
139 Rod Sensitivity in Age-related Macular Degeneration (AMD) and Retinitis Pigmentosa (RP) Enrolling by invitation NCT03322930
140 Post-Marketing Surveillance of Patients Using the Subretinal Retina Implant Alpha Enrolling by invitation NCT02588430
141 Study of a Suprachoroidal Retinal Prosthesis Enrolling by invitation NCT03406416 Not Applicable
142 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable
143 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
144 The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients Not yet recruiting NCT03078309 Early Phase 1 cannabis
145 Treatment of RP and LCA by Primary RPE Transplantation Not yet recruiting NCT03566147 Early Phase 1
146 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Not yet recruiting NCT03561922 Not Applicable
147 Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa - a Safety and Efficacy Multicenter Study Suspended NCT02548572 Not Applicable
148 Evoked Retinal Response Terminated NCT01415453 Not Applicable
149 Observational Natural History Study of Autosomal Dominant Retinitis Pigmentosa (adRP) Terminated NCT02926092
150 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 29 AIPL1 ARL6 C8orf37 CLRN1 CNGA1 CRX LRAT PDE6G RBP3 ROM1

Anatomical Context for Retinitis Pigmentosa

MalaCards organs/tissues related to Retinitis Pigmentosa:

41
Retina, Eye, Bone, 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 1653, show less)
# Title Authors Year
1
Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa. ( 29947567 )
2018
2
Characterization of Retinitis Pigmentosa Using Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO). ( 29946494 )
2018
3
Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study. ( 29940899 )
2018
4
Quantification of Macular Microvascular Changes in Patients With Retinitis Pigmentosa Using Optical Coherence Tomography Angiography. ( 29365150 )
2018
5
Optical coherence tomography angiography of the macular microvasculature changes in retinitis pigmentosa. ( 28561452 )
2018
6
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. ( 29800053 )
2018
7
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa. ( 29411205 )
2018
8
Patients and animal models of CNGI^1-deficient retinitis pigmentosa support gene augmentation approach. ( 29202463 )
2018
9
Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family. ( 29749994 )
2018
10
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. ( 29425069 )
2018
11
Aerobic Glycolysis Is Essential for Normal Rod Function and Controls Secondary Cone Death in Retinitis Pigmentosa. ( 29847794 )
2018
12
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G&amp;gt;A mutation in the MT-TW gene. ( 29625105 )
2018
13
Coping strategies, vision-related quality of life, and emotional health in managing retinitis pigmentosa: a survey study. ( 29378559 )
2018
14
A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family. ( 29892959 )
2018
15
Ultra-widefield imaging in Coats'-type retinitis pigmentosa. ( 29941749 )
2018
16
Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa. ( 29957067 )
2018
17
Correlation between aqueous flare and residual visual field area in retinitis pigmentosa. ( 29858180 )
2018
18
Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population. ( 29899460 )
2018
19
Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi. ( 29377744 )
2018
20
Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. ( 29087248 )
2018
21
A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa. ( 29973277 )
2018
22
Retinal Anatomy and Electrode Array Position in Retinitis Pigmentosa Patients after Argus II Implantation: an International Study. ( 29940167 )
2018
23
highroad Is a Carboxypetidase Induced by Retinoids to Clear Mutant Rhodopsin-1 in Drosophila Retinitis Pigmentosa Models. ( 29425495 )
2018
24
Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa. ( 29847644 )
2018
25
Eplerenone, a new treatment for an old problem: Retinitis pigmentosa with recalcitrant macular edema. ( 28624313 )
2018
26
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. ( 29847639 )
2018
27
A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa. ( 29931334 )
2018
28
Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa. ( 29345014 )
2018
29
AAV Gene Augmentation Therapy for CRB1-Associated Retinitis Pigmentosa. ( 29188511 )
2018
30
Intraobserver Repeatability and Interobserver Reproducibility of Ellipsoid Zone Measurements in Retinitis Pigmentosa. ( 29881650 )
2018
31
Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa. ( 29411010 )
2018
32
Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa. ( 29188504 )
2018
33
Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial. ( 29879277 )
2018
34
Nonclinical Safety Evaluation of scAAV8-<i>RLBP1</i>for Treatment of<i>RLBP1</i>Retinitis Pigmentosa. ( 29359172 )
2018
35
A novel mutation in<i>PRPF31</i>, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer. ( 29375987 )
2018
36
Rasagiline delays retinal degeneration in a mouse model of retinitis pigmentosa via modulation of Bax/Bcl-2 expression. ( 29372592 )
2018
37
Methodological Insights for Randomized Clinical Trials of Retinitis Pigmentosa: Lessons Learned From a Trial of Valproic Acid. ( 29879289 )
2018
38
Application of empirical Bayes methods to predict the rate of decline in ERG at the individual level among patients with retinitis pigmentosa. ( 29855067 )
2018
39
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa. ( 29437494 )
2018
40
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ( 29192808 )
2018
41
EDI-OCT evaluation of choroidal thickness in retinitis pigmentosa. ( 28604982 )
2018
42
Gene Correction Reverses Ciliopathy and Photoreceptor Loss in iPSC-Derived Retinal Organoids from Retinitis Pigmentosa Patients. ( 29874627 )
2018
43
Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing. ( 29437900 )
2018
44
Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa. ( 29305715 )
2018
45
Improved retinal and visual function following panmacular subthreshold diode micropulse laser for retinitis pigmentosa. ( 29449615 )
2018
46
HIF-1I+ stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa. ( 29295858 )
2018
47
Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing. ( 29260190 )
2017
48
Acute and Protracted Cell Death in Light-Induced Retinal Degeneration in the Canine Model of Rhodopsin Autosomal Dominant Retinitis Pigmentosa. ( 28114588 )
2017
49
Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa. ( 27028480 )
2017
50
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for theA NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. ( 29054413 )
2017
51
Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa. ( 28549772 )
2017
52
Mathematical models of retinitis pigmentosa: The oxygen toxicity hypothesis. ( 28483568 )
2017
53
Loss of the cone-enriched<i>caspase-7</i>does not affect secondary cone death in retinitis pigmentosa. ( 29296074 )
2017
54
Reduced Central Retinal Artery Blood Flow Is Related to Impaired Central Visual Function in Retinitis Pigmentosa Patients. ( 28910168 )
2017
55
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations. ( 28678594 )
2017
56
Radial Peripapillary Capillary Network in Patients with Retinitis Pigmentosa: An Optical Coherence Tomography Angiography Study. ( 29163338 )
2017
57
Risk Factors for Posterior Subcapsular Cataract in Retinitis Pigmentosa. ( 28492871 )
2017
58
Seeing through their eyes: lived experiences of people with retinitis pigmentosa. ( 28085147 )
2017
59
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement. ( 28192796 )
2017
60
Early Microglia Activation Precedes Photoreceptor Degeneration in a Mouse Model of CNGB1-Linked Retinitis Pigmentosa. ( 29354133 )
2017
61
A novel MERTK mutation causing retinitis pigmentosa. ( 28462455 )
2017
62
Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation. ( 27768226 )
2017
63
Survival analysis of visual improvement after cataract surgery in advanced retinitis pigmentosa. ( 28776592 )
2017
64
Opposing Effects of Valproic Acid Treatment Mediated by Histone Deacetylase Inhibitor Activity in Four Transgenic X. laevis Models of Retinitis Pigmentosa. ( 28490005 )
2017
65
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. ( 28056120 )
2017
66
Retinitis Pigmentosa Sine Pigmento Mimicking a Chiasm Disease. ( 29344059 )
2017
67
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. ( 28766925 )
2017
68
The adverse effects of valproic acid on visual functions in the treatment of retinitis pigmentosa. ( 29044065 )
2017
69
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression. ( 28324114 )
2017
70
Posterior microphthalmos, retinitis pigmentosa and optic disc drusen with white dots. A case report. ( 28511857 )
2017
71
Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention. ( 27913439 )
2017
72
Subluxated intraocular lens secondary toA retinitis pigmentosa-associated zonulopathy: August consultation #1. ( 28917417 )
2017
73
Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa. ( 28095122 )
2017
74
Retinal pigmentary changes in chronic uveitis mimicking retinitis pigmentosa. ( 28523457 )
2017
75
Optical Coherence Tomography Angiography to Estimate Retinal Blood Flow in Eyes with Retinitis Pigmentosa. ( 28406171 )
2017
76
Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. ( 29111861 )
2017
77
PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti's Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family. ( 28848678 )
2017
78
ERG and other discriminators between advanced hydroxychloroquine retinopathy and retinitis pigmentosa. ( 28451987 )
2017
79
Role of the sigma-1 receptor chaperone in rod and cone photoreceptor degenerations in a mouse model of retinitis pigmentosa. ( 28927431 )
2017
80
Absence of Sigma 1 Receptor Accelerates Photoreceptor Cell Death in a Murine Model of Retinitis Pigmentosa. ( 28877319 )
2017
81
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. ( 28209709 )
2017
82
Improving graph-based OCT segmentation for severe pathology in Retinitis Pigmentosa patients. ( 28781413 )
2017
83
Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation. ( 28003964 )
2017
84
Recombinant Human Nerve Growth Factor Treatment Promotes Photoreceptor Survival in the Retinas of Rats with Retinitis Pigmentosa. ( 28632034 )
2017
85
Ocular Biometry in Primary Angle-Closure Glaucoma Associated with Retinitis Pigmentosa. ( 29464115 )
2017
86
Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa. ( 28390992 )
2017
87
Clinical correlation between retinal sensitivity and foveal thickness in retinitis pigmentosa patients. ( 27834465 )
2017
88
Gene panel sequencing in Brazilian patients with retinitis pigmentosa. ( 28912962 )
2017
89
A Case of Unilateral Retinitis Pigmentosa Associated with Full Thickness Macular Hole. ( 28936059 )
2017
90
Cystoid Macular Edema in Retinitis Pigmentosa with Intermediate Uveitis Responded Well to Oral and Posterior Subtenon Steroid. ( 28353369 )
2017
91
A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa. ( 28453362 )
2017
92
Identification of a disease-causing mutation in a Chinese patient with retinitis pigmentosa by targeted next-generation sequencing. ( 28430325 )
2017
93
Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models. ( 28814713 )
2017
94
Genetic rescue models refute nonautonomous rod cell death in retinitis pigmentosa. ( 28468800 )
2017
95
Retrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging. ( 28871101 )
2017
96
KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa. ( 29032201 )
2017
97
Protective effect of sulforaphane against retinal degeneration in the Pde6(rd10) mouse model of retinitis pigmentosa. ( 28937835 )
2017
98
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. ( 28053051 )
2017
99
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
100
Small molecules targeting glycogen synthase kinase 3 as potential drug candidates for the treatment of retinitis pigmentosa. ( 28114834 )
2017
101
The unusual association of inverse retinitis pigmentosa and Fuchs' heterochromic iridocyclitis. ( 28127443 )
2017
102
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. ( 28076437 )
2017
103
Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing. ( 28106895 )
2017
104
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. ( 28442542 )
2017
105
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. ( 28863407 )
2017
106
Transcorneal electrical stimulation for the treatment of retinitis pigmentosa: results from the TESOLAUK trial. ( 29354722 )
2017
107
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
108
Four-year nationwide incidence of retinitis pigmentosa in South Korea: a population-based retrospective study from 2011 to 2014. ( 28490561 )
2017
109
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives. ( 29097191 )
2017
110
Anterior lens epithelium in cataract patients with retinitis pigmentosa - scanning and transmission electron microscopy study. ( 27679403 )
2017
111
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
112
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. ( 28512305 )
2017
113
EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. ( 28704921 )
2017
114
Retinitis Pigmentosa Associated with Glucose-6-Phosphate Dehydrogenase Deficiency. ( 28948126 )
2017
115
Small molecule Photoregulin3 prevents retinal degeneration in the <i>Rho<sup>P23H</sup></i> mouse model of retinitis pigmentosa. ( 29148976 )
2017
116
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects. ( 29276052 )
2017
117
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
118
A Nine-Year Follow-Up of Macular Complications in Retinitis Pigmentosa and Diabetes Mellitus. ( 28419400 )
2017
119
Retinitis pigmentosa: an unusual ocular manifestation in a patient with neurofibromatosis type 1. ( 28906094 )
2017
120
Dark-Adapted Chromatic Perimetry for Measuring Rod Visual Fields in Patients with Retinitis Pigmentosa. ( 28798898 )
2017
121
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. ( 28763557 )
2017
122
Structure-function correlations in Retinitis Pigmentosa patients with partially preserved vision: a voxel-based morphometry study. ( 28900214 )
2017
123
Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations. ( 28763560 )
2017
124
Mevalonate kinase deficiency associated with ataxia and retinitis pigmentosa in two brothers with MVK gene mutations. ( 28095071 )
2017
125
The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa. ( 29036441 )
2017
126
Restoration of Cone Photoreceptor Function in Retinitis Pigmentosa. ( 28900578 )
2017
127
Flavonoid allosteric modulation of mutated visual rhodopsin associated with retinitis pigmentosa. ( 28894166 )
2017
128
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN PATIENTS WITH RETINITIS PIGMENTOSA. ( 29068913 )
2017
129
Type 3 Neovascularization Associated with Retinitis Pigmentosa. ( 28512428 )
2017
130
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. ( 28794130 )
2017
131
Visual Search Behavior in Individuals With Retinitis Pigmentosa During Level Walking and Obstacle Crossing. ( 28973321 )
2017
132
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. ( 28412069 )
2017
133
High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa. ( 28045043 )
2017
134
Possible protective role of the ABCA4 gene c.1268A&amp;gt;G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data. ( 28290600 )
2017
135
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
136
Inner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure. ( 27564720 )
2016
137
Retinitis Pigmentosa Mutations in Bad Response to Refrigeration 2 (Brr2) Impair ATPase and Helicase Activity. ( 27072132 )
2016
138
Clinical presentation and visual status of retinitis pigmentosa patients: a multicenter study in southwestern Nigeria. ( 27601870 )
2016
139
Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa. ( 27212874 )
2016
140
Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene. ( 27633571 )
2016
141
A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies. ( 27564722 )
2016
142
Treatment of Retinitis Pigmentosa-Associated Cystoid Macular Oedema Using Intravitreal Aflibercept (Eylea) despite Minimal Response to Ranibizumab (Lucentis): A Case Report. ( 27721789 )
2016
143
Retinitis pigmentosa in Lafora disease: Expanding findings of progressive myoclonic epilepsy. ( 27164451 )
2016
144
Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. ( 27440997 )
2016
145
Computer-Assisted Evaluation of Retinal Vessel Diameter in Retinitis Pigmentosa. ( 27399173 )
2016
146
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. ( 26740549 )
2016
147
Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. ( 27734943 )
2016
148
Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa. ( 27391550 )
2016
149
Wide-Field Fundus Autofluorescence for Retinitis Pigmentosa and Cone/Cone-Rod Dystrophy. ( 26427426 )