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:

(show top 50) (show all 439)
# 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

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 (show all 30)
# 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 (show all 17)
# 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
# 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):

(show top 50) (show all 117)
# 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

Interventional clinical trials:

(show top 50) (show all 150)
# 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

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:

(show top 50) (show all 1653)
# 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

Variations for Retinitis Pigmentosa

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa:

75
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg41Gln VAR_007946 rs61748436

ClinVar genetic disease variations for Retinitis Pigmentosa:

6
(show top 50) (show all 650)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS10 NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh38 Chromosome 12, 76347714: 76347714
2 BBS10 NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh37 Chromosome 12, 76741494: 76741494
3 RDH12 NM_152443.2(RDH12): c.377C> T (p.Ala126Val) single nucleotide variant Pathogenic rs202126574 GRCh37 Chromosome 14, 68192801: 68192801
4 RDH12 NM_152443.2(RDH12): c.377C> T (p.Ala126Val) single nucleotide variant Pathogenic rs202126574 GRCh38 Chromosome 14, 67726084: 67726084
5 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
6 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh38 Chromosome 1, 216247095: 216247095
7 USH2A NM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter) single nucleotide variant Pathogenic rs111033364 GRCh37 Chromosome 1, 215901574: 215901574
8 USH2A NM_206933.2(USH2A): c.11864G> A (p.Trp3955Ter) single nucleotide variant Pathogenic rs111033364 GRCh38 Chromosome 1, 215728232: 215728232
9 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh37 Chromosome 1, 216498841: 216498841
10 USH2A NM_206933.2(USH2A): c.949C> A (p.Arg317=) single nucleotide variant Pathogenic rs111033272 GRCh38 Chromosome 1, 216325499: 216325499
11 USH2A NM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly) single nucleotide variant Pathogenic rs80338904 GRCh37 Chromosome 1, 215844427: 215844427
12 USH2A NM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly) single nucleotide variant Pathogenic rs80338904 GRCh38 Chromosome 1, 215671085: 215671085
13 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh37 Chromosome 2, 182423344: 182423344
14 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh38 Chromosome 2, 181558617: 181558617
15 CLRN1 NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter) single nucleotide variant Pathogenic rs111033267 GRCh37 Chromosome 3, 150690307: 150690307
16 CLRN1 NM_001195794.1(CLRN1): c.189C> A (p.Tyr63Ter) single nucleotide variant Pathogenic rs111033267 GRCh38 Chromosome 3, 150972520: 150972520
17 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh37 Chromosome 4, 15995651: 15995651
18 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh38 Chromosome 4, 15994028: 15994028
19 UNC119 NM_005148.3(UNC119): c.169A> T (p.Lys57Ter) single nucleotide variant Pathogenic rs267607166 GRCh37 Chromosome 17, 26879407: 26879407
20 UNC119 NM_005148.3(UNC119): c.169A> T (p.Lys57Ter) single nucleotide variant Pathogenic rs267607166 GRCh38 Chromosome 17, 28552389: 28552389
21 RP1 NM_006269.1(RP1): c.2285_2289delTAAAT (p.Leu762Tyrfs) deletion Pathogenic rs869320726 GRCh38 Chromosome 8, 54626167: 54626171
22 RP1 NM_006269.1(RP1): c.2285_2289delTAAAT (p.Leu762Tyrfs) deletion Pathogenic rs869320726 GRCh37 Chromosome 8, 55538727: 55538731
23 TULP1 NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser) single nucleotide variant Pathogenic rs121909076 GRCh37 Chromosome 6, 35471593: 35471593
24 TULP1 NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser) single nucleotide variant Pathogenic rs121909076 GRCh38 Chromosome 6, 35503816: 35503816
25 PHYH NM_006214.3(PHYH): c.823C> T (p.Arg275Trp) single nucleotide variant Pathogenic rs104894178 GRCh37 Chromosome 10, 13325695: 13325695
26 PHYH NM_006214.3(PHYH): c.823C> T (p.Arg275Trp) single nucleotide variant Pathogenic rs104894178 GRCh38 Chromosome 10, 13283695: 13283695
27 SNRNP200 NM_014014.4(SNRNP200): c.3260C> T (p.Ser1087Leu) single nucleotide variant Pathogenic/Likely pathogenic rs267607077 GRCh37 Chromosome 2, 96953706: 96953706
28 SNRNP200 NM_014014.4(SNRNP200): c.3260C> T (p.Ser1087Leu) single nucleotide variant Pathogenic/Likely pathogenic rs267607077 GRCh38 Chromosome 2, 96287968: 96287968
29 GUCA1A NM_000409.4(GUCA1A): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic rs104893967 GRCh37 Chromosome 6, 42146112: 42146112
30 GUCA1A NM_000409.4(GUCA1A): c.296A> G (p.Tyr99Cys) single nucleotide variant Pathogenic rs104893967 GRCh38 Chromosome 6, 42178374: 42178374
31 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
32 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh38 Chromosome 11, 66526181: 66526181
33 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic rs29001566 GRCh37 Chromosome 3, 129252554: 129252554
34 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic rs29001566 GRCh38 Chromosome 3, 129533711: 129533711
35 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh37 Chromosome 3, 129249760: 129249760
36 RHO NM_000539.3(RHO): c.403C> T (p.Arg135Trp) single nucleotide variant Pathogenic rs104893775 GRCh38 Chromosome 3, 129530917: 129530917
37 RHO NM_000539.3(RHO): c.158C> G (p.Pro53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28933395 GRCh37 Chromosome 3, 129247734: 129247734
38 RHO NM_000539.3(RHO): c.158C> G (p.Pro53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs28933395 GRCh38 Chromosome 3, 129528891: 129528891
39 RHO NM_000539.3(RHO): c.568G> T (p.Asp190Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104893779 GRCh37 Chromosome 3, 129251131: 129251131
40 RHO NM_000539.3(RHO): c.568G> T (p.Asp190Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs104893779 GRCh38 Chromosome 3, 129532288: 129532288
41 RHO NM_000539.3(RHO): c.44A> G (p.Asn15Ser) single nucleotide variant Pathogenic rs104893786 GRCh37 Chromosome 3, 129247620: 129247620
42 RHO NM_000539.3(RHO): c.44A> G (p.Asn15Ser) single nucleotide variant Pathogenic rs104893786 GRCh38 Chromosome 3, 129528777: 129528777
43 RLBP1 NM_000326.4(RLBP1): c.677T> A (p.Met226Lys) single nucleotide variant Pathogenic rs137853291 GRCh37 Chromosome 15, 89754981: 89754981
44 RLBP1 NM_000326.4(RLBP1): c.677T> A (p.Met226Lys) single nucleotide variant Pathogenic rs137853291 GRCh38 Chromosome 15, 89211750: 89211750
45 PDE6B NM_000283.3(PDE6B): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs121918579 GRCh37 Chromosome 4, 647908: 647908
46 PDE6B NM_000283.3(PDE6B): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs121918579 GRCh38 Chromosome 4, 654119: 654119
47 PDE6B NM_000283.3(PDE6B): c.1669C> T (p.His557Tyr) single nucleotide variant Pathogenic rs121918581 GRCh37 Chromosome 4, 655977: 655977
48 PDE6B NM_000283.3(PDE6B): c.1669C> T (p.His557Tyr) single nucleotide variant Pathogenic rs121918581 GRCh38 Chromosome 4, 662188: 662188
49 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh37 Chromosome 1, 68895518: 68895518
50 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh38 Chromosome 1, 68429835: 68429835

Copy number variations for Retinitis Pigmentosa from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 56866 11 61700000 63400000 Gain or loss ROM1 Retinitis pigmentosa
2 132542 19 59310648 59326954 Microdeletion PRPF31 Retinitis pigmentosa
3 179965 4 1 4500000 Copy number PDE6B Retinitis pigmentosa
4 214787 6 66095891 66473839 Deletion EYS Retinitis pigmentosa
5 219465 7 127100000 129200000 Gain or loss IMPDH1 Retinitis pigmentosa

Expression for Retinitis Pigmentosa

Search GEO for disease gene expression data for Retinitis Pigmentosa.

Pathways for Retinitis Pigmentosa

Pathways related to Retinitis Pigmentosa according to KEGG:

37
# Name Kegg Source Accession
1 Phototransduction hsa04744
2 Retinol metabolism hsa00830
3 Spliceosome hsa03040
4 Terpenoid backbone biosynthesis hsa00900

GO Terms for Retinitis Pigmentosa

Cellular components related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.54 RPGR TOPORS USH2A
2 photoreceptor connecting cilium GO:0032391 9.5 RP1 TOPORS USH2A
3 photoreceptor disc membrane GO:0097381 9.46 ABCA4 PDE6A PDE6B RHO
4 photoreceptor outer segment membrane GO:0042622 9.43 CNGA1 RHO ROM1
5 photoreceptor inner segment GO:0001917 9.43 CERKL CRB1 RHO RP1 TULP1 USH2A
6 photoreceptor outer segment GO:0001750 9.28 ABCA4 CERKL CNGA1 MERTK PRPH2 RHO

Biological processes related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.83 ABCA4 CLRN1 CNGA1 CRX EYS PDE6A
2 photoreceptor cell maintenance GO:0045494 9.73 ABCA4 CLRN1 RHO RP1 TULP1 USH2A
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.71 CNGA1 PDE6A PDE6B RHO
4 retina development in camera-type eye GO:0060041 9.7 MERTK PDE6B PRPH2 RHO RP1 RPE65
5 retinoid metabolic process GO:0001523 9.69 ABCA4 RHO RPE65
6 rhodopsin mediated signaling pathway GO:0016056 9.67 CNGA1 PDE6A PDE6B RHO
7 detection of light stimulus involved in visual perception GO:0050908 9.65 EYS RPE65 TULP1
8 sensory perception of light stimulus GO:0050953 9.63 CLRN1 RHO USH2A
9 phototransduction, visible light GO:0007603 9.62 ABCA4 PDE6B RHO RP1
10 retina morphogenesis in camera-type eye GO:0060042 9.61 ROM1 RP1 RPE65
11 eye photoreceptor cell development GO:0042462 9.58 CRB1 TULP1
12 GMP metabolic process GO:0046037 9.57 PDE6A PDE6B
13 cellular response to light stimulus GO:0071482 9.56 RHO RP1
14 retinal rod cell development GO:0046548 9.55 RP1 TOPORS
15 retinal cone cell development GO:0046549 9.54 RP1 TOPORS
16 photoreceptor cell outer segment organization GO:0035845 9.52 RP1 TOPORS
17 detection of light stimulus GO:0009583 9.49 PDE6B RHO
18 response to stimulus GO:0050896 9.44 ABCA4 CLRN1 CNGA1 CRX EYS PDE6A

Molecular functions related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 8.62 PDE6A PDE6B

Sources for Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....