RP
MCID: RTN008
MIFTS: 80

Retinitis Pigmentosa (RP)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa

MalaCards integrated aliases for Retinitis Pigmentosa:

Name: Retinitis Pigmentosa 58 39 12 77 54 26 60 76 38 30 56 6 45 15 41 74
Rp 58 54 26 76
Rod-Cone Dystrophy 26 76 6
Retinitis Pigmentosa 1 45 74
Cone Rod Dystrophy 60 6
Retinitis Pigmentosa, Autosomal Recessive 41
Retinitis Pigmentosa Autosomal Recessive 76
Autosomal Recessive Retinitis Pigmentosa 30
Pericentral Pigmentary Retinopathy 12
Non-Syndromic Retinitis Pigmentosa 76
Tapetoretinal Degeneration 26
Pigmentary Retinopathy 26
Dystrophy, Cone-Rod 41
Arrp 76
Rcd 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive most frequent, autosomal dominant next, and x-linked recessive least frequent



Classifications:

Orphanet: 60  
Rare eye diseases


Summaries for Retinitis Pigmentosa

OMIM : 58 Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people (Veltel et al., 2008). Symptoms include night blindness, the development of tunnel vision, and slowly progressive decreased central vision starting at approximately 20 years of age. Upon examination, patients have decreased visual acuity, constricted visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'), attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells, and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty percent of female carriers of X-linked RP have a golden reflex in the posterior pole (summary by Kaiser et al., 2004). (268000)

MalaCards based summary : Retinitis Pigmentosa, also known as rp, is related to retinitis pigmentosa 19 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 Tocopherol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are nystagmus and intellectual disability

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

Genetics Home Reference : 26 Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 714)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 19 35.3 ABCA4 CNGA1 PDE6B RHO
2 retinitis pigmentosa 1 35.3 PRPH2 RHO RP1
3 retinitis pigmentosa 7 35.3 PRPH2 RHO ROM1
4 retinitis pigmentosa 43 35.2 PDE6A PDE6B RHO
5 cone-rod dystrophy 8 35.1 ABCA4 CRX
6 retinitis pigmentosa 38 35.0 MERTK RPE65
7 cone-rod dystrophy 2 34.8 ABCA4 CERKL CRX FAM161A PRPH2 RHO
8 leber congenital amaurosis 4 34.7 CRX PDE6A RPE65
9 usher syndrome 34.6 CLRN1 RPGR USH2A
10 usher syndrome, type i 34.5 CLRN1 RHO USH2A
11 retinitis pigmentosa 33 34.5 MERTK SNRNP200
12 nonsyndromic retinitis pigmentosa 34.4 CLRN1 USH2A
13 retinitis 34.1 CERKL EYS FAM161A PRPH2 RHO RP1
14 usher syndrome, type iid 33.5 RHO RPGR USH2A
15 usher syndrome, type iic 33.4 CLRN1 CRB1 PDE6A PDE6B USH2A
16 usher syndrome type 2 33.2 CLRN1 EYS USH2A
17 retinal degeneration 32.9 ABCA4 CRB1 CRX PDE6B PRPH2 RHO
18 leber congenital amaurosis 32.8 ABCA4 CRB1 CRX MERTK PDE6A PDE6B
19 fundus dystrophy 32.8 ABCA4 CERKL CNGA1 CRB1 CRX EYS
20 macular dystrophy, concentric annular 32.6 ABCA4 CRX
21 retinal disease 32.4 ABCA4 CRB1 CRX MERTK PDE6A PDE6B
22 stargardt disease 32.3 ABCA4 CRB1 EYS MERTK PRPH2 RHO
23 macular degeneration, age-related, 1 32.0 ABCA4 CRB1 PRPH2 RHO RPE65
24 macular dystrophy, dominant cystoid 32.0 CRB1 PDE6A
25 yemenite deaf-blind hypopigmentation syndrome 31.9 ABCA4 CRB1 RHO RPE65 RPGR USH2A
26 fundus albipunctatus 31.8 PDE6B PRPH2 RHO RPE65
27 macular retinal edema 31.8 CRB1 PDE6A
28 night blindness 31.6 PDE6B RHO RPE65
29 stargardt disease 1 31.4 ABCA4 CRX RHO ROM1
30 congenital stationary night blindness 31.4 ABCA4 PDE6B RHO RPE65
31 optic disk drusen 31.2 CRB1 RHO
32 retinoschisis 1, x-linked, juvenile 30.9 CRB1 CRX RPE65
33 newfoundland rod-cone dystrophy 12.9
34 spondylometaphyseal dysplasia with cone-rod dystrophy 12.9
35 cone-rod dystrophy and hearing loss 2 12.7
36 retinitis pigmentosa 3 12.7
37 neuropathy, ataxia, and retinitis pigmentosa 12.7
38 posterior column ataxia with retinitis pigmentosa 12.7
39 cone-rod dystrophy, x-linked, 2 12.7
40 retinitis pigmentosa 2 12.7
41 retinitis pigmentosa 4 12.7
42 cone-rod dystrophy 17 12.7
43 retinitis pigmentosa 50 12.7
44 retinitis pigmentosa 11 12.6
45 retinitis pigmentosa 9 12.6
46 retinitis pigmentosa 14 12.6
47 retinitis pigmentosa 10 12.6
48 retinitis pigmentosa 46 12.6
49 retinitis pigmentosa 67 12.6
50 retinitis pigmentosa 13 12.6

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



Diseases related to Retinitis Pigmentosa

Symptoms & Phenotypes for Retinitis Pigmentosa

Human phenotypes related to Retinitis Pigmentosa:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
4 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
5 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
6 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
7 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007703
8 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
9 photophobia 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000613
10 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
11 atypical scarring of skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000987
12 nyctalopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000662
13 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135
14 conductive hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000405
15 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
16 progressive night blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0007675
17 abnormal retinal vascular morphology 33 hallmark (90%) HP:0008046
18 abnormal testis morphology 33 hallmark (90%) HP:0000035
19 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
20 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
21 hyperinsulinemia 60 33 frequent (33%) Frequent (79-30%) HP:0000842
22 ophthalmoplegia 60 33 frequent (33%) Frequent (79-30%) HP:0000602
23 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
24 keratoconus 60 33 frequent (33%) Frequent (79-30%) HP:0000563
25 color vision defect 33 frequent (33%) HP:0000551
26 hyperreflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001347
27 type ii diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0005978
28 visual impairment 60 33 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000505
29 abnormality of the retinal vasculature 60 Very frequent (99-80%)
30 abnormality of the testis 60 Very frequent (99-80%)
31 abnormality of color vision 60 Frequent (79-30%)
32 rod-cone dystrophy 33 HP:0000510
33 constriction of peripheral visual field 33 HP:0001133
34 abnormality of fundus pigmentation 33 HP:0031605

Symptoms via clinical synopsis from OMIM:

58
Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
fundal pigment lumps

Clinical features from OMIM:

268000

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium invasion GR00133-A-1 8.92 CERKL PDE6B RPGR TULP1

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ABCA4 CLRN1 CRB1 CRX FAM161A MERTK
2 cardiovascular system MP:0005385 10.03 ABCA4 CRX FAM161A MERTK PDE6B PRPH2
3 pigmentation MP:0001186 9.65 ABCA4 CRB1 CRX MERTK PDE6B PRPH2
4 vision/eye MP:0005391 9.55 ABCA4 CERKL CLRN1 CRB1 CRX FAM161A

Drugs & Therapeutics for Retinitis Pigmentosa

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

(show top 50) (show all 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 3 1406-66-2 14986
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
3
Lutein Approved, Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 127-40-2 6433159
4
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
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 Tocotrienol Investigational Phase 3 6829-55-6
8 Hormone Antagonists Phase 3,Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
10 Hormones Phase 3,Phase 2
11 Retinol palmitate Phase 3,Phase 1
12 Protective Agents Phase 3,Phase 2,Phase 1
13 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
14 Nutrients Phase 3,Phase 2,Phase 1,Early Phase 1
15 retinol Phase 3,Phase 1
16 Bone Density Conservation Agents Phase 3
17 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
18 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
19 Antioxidants Phase 3,Phase 2,Phase 1
20 Calciferol Phase 3
21 Tocopherols Phase 3
22 Tocotrienols Phase 3
23 Antihypertensive Agents Phase 3,Phase 1,Phase 2
24 Carotenoids Phase 2, Phase 3,Phase 1
25 Provitamins Phase 2, Phase 3,Phase 1
26 alpha-MSH Phase 3,Phase 2 581-05-5
27 Isopropyl unoprostone Phase 3
28
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
29
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
30
Iodine Approved, Investigational Phase 2,Phase 1 7553-56-2 807
31
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
32
Povidone Approved Phase 2,Phase 1 9003-39-8
33
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
34
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
35
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
36
Carbidopa Approved Phase 2 28860-95-9 34359
37
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
38
Levodopa Approved Phase 2 59-92-7 6047
39
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
40 Pharmaceutical Solutions Phase 2,Phase 1,Not Applicable
41 Anti-Inflammatory Agents Phase 2
42 Autonomic Agents Phase 2
43 HIV Protease Inhibitors Phase 2
44 Antiemetics Phase 2
45 Gastrointestinal Agents Phase 2
46 BB 1101 Phase 2
47 glucocorticoids Phase 2
48
protease inhibitors Phase 2
49 Antineoplastic Agents, Hormonal Phase 2
50 Peripheral Nervous System Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 166)
# 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 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 2, Phase 3
6 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
7 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
8 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
9 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
10 Open-Label Rollover Study of PBI 4050 in Subjects With Alström Syndrome Active, not recruiting NCT03184584 Phase 2, Phase 3 PBI-4050
11 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3 UF-021;Placebo
12 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Unknown status NCT02661711 Phase 2 Aflibercept
13 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
14 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Unknown status NCT02804360 Phase 2
15 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
16 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
17 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
18 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
19 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Completed NCT02320812 Phase 1, Phase 2
20 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
21 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
22 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
23 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
24 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
25 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
26 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
27 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
28 Gene Therapy for Blindness Caused by Choroideremia Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
29 Safety and Tolerability of PBI-4050 and Its Effects on the Biomarkers in Subjects With Alström Syndrome Completed NCT02739217 Phase 2 PBI-4050
30 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
31 Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
32 A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa Recruiting NCT03374657 Phase 1, Phase 2
33 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2 hRPC
34 Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03252847 Phase 1, Phase 2
35 Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations Recruiting NCT03316560 Phase 1, Phase 2
36 Safety and Efficacy Study in Patients With Retinitis Pigmentosa Due to Mutations in PDE6B Gene Recruiting NCT03328130 Phase 1, Phase 2
37 RST-001 Phase I/II Trial for Advanced Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2 RST-001
38 Study of SAR421869 in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
39 Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
40 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
41 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Active, not recruiting NCT03073733 Phase 2
42 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
43 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
44 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2
45 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
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 Interventional Study of Implantation of hESC-derived RPE in Patients With RP Due to Monogenic Mutation Not yet recruiting NCT03963154 Phase 1, Phase 2
48 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
49 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Withdrawn NCT03490019 Phase 2 Metformin
50 Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa Completed NCT02280135 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 30 AIPL1 ARL6 C8orf37 CLRN1 CNGA1 CRX LRAT PDE6G RBP3 ROM1
2 Autosomal Recessive Retinitis Pigmentosa 30

Anatomical Context for Retinitis Pigmentosa

MalaCards organs/tissues related to Retinitis Pigmentosa:

42
Retina, Eye, Bone, Testes, Brain, Skin, Kidney
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 Affected by disease, potential therapeutic candidate
2 Eye Outer Nuclear Layer Mature L Cone Cells Affected by disease, potential therapeutic candidate
3 Eye Outer Nuclear Layer Mature M Cone Cells Affected by disease, potential therapeutic candidate
4 Eye Outer Nuclear Layer Mature M-S Cone Cells Affected by disease, potential therapeutic candidate
5 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Affected by disease, potential therapeutic candidate
6 Eye Outer Nuclear Layer Mature Rod Cells Affected by disease, potential therapeutic candidate
7 Eye Outer Nuclear Layer Mature S Cone Cells Affected by disease, potential therapeutic candidate
8 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Affected by disease, potential therapeutic candidate
9 Eye Outer Nuclear Layer Rod Precursor Cells Affected by disease, potential therapeutic candidate

Publications for Retinitis Pigmentosa

Articles related to Retinitis Pigmentosa:

(show top 50) (show all 4978)
# Title Authors Year
1
Night-vision aid using see-through display for patients with retinitis pigmentosa. ( 30604110 )
2019
2
Generation of gene-corrected human induced pluripotent stem cell lines derived from retinitis pigmentosa patient with Ser331Cysfs*5 mutation in MERTK. ( 30612079 )
2019
3
Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss. ( 30768229 )
2019
4
Correction: Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients. ( 30769346 )
2019
5
Novel stem cell and gene therapy in diabetic retinopathy, age related macular degeneration, and retinitis pigmentosa. ( 30805203 )
2019
6
Correlation between Visual Function and Structural Characteristics of the Macula in Advanced Retinitis Pigmentosa. ( 30893682 )
2019
7
Early detection of cone photoreceptor cell loss in retinitis pigmentosa using adaptive optics scanning laser ophthalmoscopy. ( 30937533 )
2019
8
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. ( 31012789 )
2019
9
Soluble CX3CL1 gene therapy improves cone survival and function in mouse models of retinitis pigmentosa. ( 31036641 )
2019
10
Therapeutic Window for Phosphodiesterase 6-Related Retinitis Pigmentosa. ( 30998807 )
2019
11
Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases. ( 30977268 )
2019
12
Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation. ( 30976840 )
2019
13
Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa. ( 30972525 )
2019
14
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa. ( 30967900 )
2019
15
Quantitative evaluation of primary retinitis pigmentosa patients using colour Doppler flow imaging and optical coherence tomography angiography. ( 30963731 )
2019
16
The Molecular Organization of Human cGMP Specific Phosphodiesterase 6 (PDE6): Structural Implications of Somatic Mutations in Cancer and Retinitis Pigmentosa. ( 30962868 )
2019
17
Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients. ( 30948794 )
2019
18
Dominant ARL3-related retinitis pigmentosa. ( 30932721 )
2019
19
Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene. ( 30921587 )
2019
20
Vitamins and Mineral Supplements for Retinitis Pigmentosa. ( 30918719 )
2019
21
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers. ( 30917587 )
2019
22
Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds. ( 30904946 )
2019
23
Altered intra- and inter-regional functional connectivity of the visual cortex in individuals with peripheral vision loss due to retinitis pigmentosa. ( 30904614 )
2019
24
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases. ( 30902645 )
2019
25
Concentric Choriocapillaris Flow Deficits in Retinitis Pigmentosa Detected Using Wide-Angle Swept-Source Optical Coherence Tomography Angiography. ( 30897619 )
2019
26
A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree. ( 30892800 )
2019
27
The clinical application of preimplantation genetic diagnosis for X-linked retinitis pigmentosa. ( 30887160 )
2019
28
Broad spectrum metabolomics for detection of abnormal metabolic pathways in a mouse model for retinitis pigmentosa. ( 30885711 )
2019
29
Photoreceptor cell replacement in macular degeneration and retinitis pigmentosa: A pluripotent stem cell-based approach. ( 30885665 )
2019
30
Novel ophthalmic formulation of myriocin: implications in retinitis pigmentosa. ( 30883241 )
2019
31
Delay of cone degeneration in retinitis pigmentosa using a 12-month treatment with Lycium barbarum supplement. ( 30877066 )
2019
32
Projection-Resolved Optical Coherence Tomographic Angiography of Retinal Plexuses in Retinitis Pigmentosa. ( 30849344 )
2019
33
Electrophysiological Changes During Early Steps of Retinitis Pigmentosa. ( 30840038 )
2019
34
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews. ( 30820151 )
2019
35
Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa. ( 30804660 )
2019
36
Targeted next generation sequencing identified novel loss-of-function mutations in MERTK gene in Chinese patients with retinitis pigmentosa. ( 30790467 )
2019
37
A Novel Method for the Objective Identification of Hyperautofluorescent Ring in Retinitis Pigmentosa Using Binarization Processing. ( 30775157 )
2019
38
Classification of disease severity in retinitis pigmentosa. ( 30705041 )
2019
39
Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene. ( 30685615 )
2019
40
Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations. ( 30685614 )
2019
41
Valproic acid's effects on visual acuity in retinitis pigmentosa: a systemic review and Meta-analysis. ( 30662852 )
2019
42
A Novel CNGA1 Gene Mutation (c.G622A) of Autosomal Recessive Retinitis Pigmentosa Leads to the CNGA1 Protein Reduction on Membrane. ( 30652268 )
2019
43
Novel PDE6B Mutation Presenting with Retinitis Pigmentosa - A Case Series of Three Patients. ( 30646425 )
2019
44
Fundus autofluorescence and ellipsoid zone (EZ) line width can be an outcome measurement in RHO-associated autosomal dominant retinitis pigmentosa. ( 30635721 )
2019
45
Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X). ( 30619975 )
2019
46
CRB2 mutation causes autosomal recessive retinitis pigmentosa. ( 30593785 )
2019
47
Retinitis Pigmentosa: Review of Current Treatment. ( 30585930 )
2019
48
Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa. ( 30582903 )
2019
49
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN PATIENTS WITH RETINITIS PIGMENTOSA. ( 30570620 )
2019
50
A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations. ( 30460480 )
2019

Variations for Retinitis Pigmentosa

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

76
# 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 774)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL18A1 NM_130445.2(COL18A1): c.3514_3515delCT (p.Leu1172Valfs) deletion Pathogenic rs398122391 GRCh37 Chromosome 21, 46930005: 46930006
2 COL18A1 NM_130445.2(COL18A1): c.3514_3515delCT (p.Leu1172Valfs) deletion Pathogenic rs398122391 GRCh38 Chromosome 21, 45510091: 45510092
3 ABCA4 NM_000350.2(ABCA4): c.4537dupC (p.Gln1513Profs) insertion Pathogenic rs281865377 GRCh37 Chromosome 1, 94495003: 94495003
4 ABCA4 NM_000350.2(ABCA4): c.4537dupC (p.Gln1513Profs) insertion Pathogenic rs281865377 GRCh38 Chromosome 1, 94029447: 94029447
5 PRPF8 NM_006445.3(PRPF8): c.926G> A (p.Arg309His) single nucleotide variant Uncertain significance rs775023296 GRCh37 Chromosome 17, 1584289: 1584289
6 PRPF8 NM_006445.3(PRPF8): c.926G> A (p.Arg309His) single nucleotide variant Uncertain significance rs775023296 GRCh38 Chromosome 17, 1680995: 1680995
7 IMPDH1 NM_000883.3(IMPDH1): c.928A> C (p.Thr310Pro) single nucleotide variant Likely pathogenic rs1057518949 GRCh38 Chromosome 7, 128398560: 128398560
8 IMPDH1 NM_000883.3(IMPDH1): c.928A> C (p.Thr310Pro) single nucleotide variant Likely pathogenic rs1057518949 GRCh37 Chromosome 7, 128038614: 128038614
9 BBS1 NM_024649.4(BBS1): c.479G> A (p.Arg160Gln) single nucleotide variant Likely pathogenic rs376894444 GRCh37 Chromosome 11, 66283057: 66283057
10 BBS1 NM_024649.4(BBS1): c.479G> A (p.Arg160Gln) single nucleotide variant Likely pathogenic rs376894444 GRCh38 Chromosome 11, 66515586: 66515586
11 CLN3 NM_001042432.1(CLN3): c.837+5G> A single nucleotide variant Uncertain significance rs756848924 GRCh37 Chromosome 16, 28493942: 28493942
12 CLN3 NM_001042432.1(CLN3): c.837+5G> A single nucleotide variant Uncertain significance rs756848924 GRCh38 Chromosome 16, 28482621: 28482621
13 PDE6B NM_000283.3(PDE6B): c.739T> A (p.Phe247Ile) single nucleotide variant Uncertain significance rs780521818 GRCh37 Chromosome 4, 647668: 647668
14 PDE6B NM_000283.3(PDE6B): c.739T> A (p.Phe247Ile) single nucleotide variant Uncertain significance rs780521818 GRCh38 Chromosome 4, 653879: 653879
15 USH2A NM_206933.2(USH2A): c.10613G> A (p.Arg3538Gln) single nucleotide variant Uncertain significance rs774844491 GRCh38 Chromosome 1, 215782169: 215782169
16 USH2A NM_206933.2(USH2A): c.10613G> A (p.Arg3538Gln) single nucleotide variant Uncertain significance rs774844491 GRCh37 Chromosome 1, 215955511: 215955511
17 USH2A NM_206933.2(USH2A): c.7475C> T (p.Ser2492Leu) single nucleotide variant Uncertain significance rs483353056 GRCh38 Chromosome 1, 215900194: 215900194
18 USH2A NM_206933.2(USH2A): c.7475C> T (p.Ser2492Leu) single nucleotide variant Uncertain significance rs483353056 GRCh37 Chromosome 1, 216073536: 216073536
19 ABCA4 NM_000350.2(ABCA4): c.6729+5_6729+19delGTTGGCCCTGGGGCA deletion Conflicting interpretations of pathogenicity rs749526785 GRCh38 Chromosome 1, 93997842: 93997856
20 ABCA4 NM_000350.2(ABCA4): c.6729+5_6729+19delGTTGGCCCTGGGGCA deletion Conflicting interpretations of pathogenicity rs749526785 GRCh37 Chromosome 1, 94463398: 94463412
21 USH2A NM_206933.2(USH2A): c.12574C> T (p.Arg4192Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs750396156 GRCh38 Chromosome 1, 215675337: 215675337
22 USH2A NM_206933.2(USH2A): c.12574C> T (p.Arg4192Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs750396156 GRCh37 Chromosome 1, 215848679: 215848679
23 AHI1 NM_017651.4(AHI1): c.2988delA (p.Val997Serfs) deletion Pathogenic rs755246809 GRCh38 Chromosome 6, 135404951: 135404951
24 AHI1 NM_017651.4(AHI1): c.2988delA (p.Val997Serfs) deletion Pathogenic rs755246809 GRCh37 Chromosome 6, 135726089: 135726089
25 RCBTB1 NM_018191.3(RCBTB1): c.919G> A (p.Val307Met) single nucleotide variant Pathogenic/Likely pathogenic rs368217569 GRCh38 Chromosome 13, 49549584: 49549584
26 RCBTB1 NM_018191.3(RCBTB1): c.919G> A (p.Val307Met) single nucleotide variant Pathogenic/Likely pathogenic rs368217569 GRCh37 Chromosome 13, 50123720: 50123720
27 RCBTB1 NM_018191.3(RCBTB1): c.930G> T (p.Trp310Cys) single nucleotide variant Pathogenic/Likely pathogenic rs772592456 GRCh38 Chromosome 13, 49549573: 49549573
28 RCBTB1 NM_018191.3(RCBTB1): c.930G> T (p.Trp310Cys) single nucleotide variant Pathogenic/Likely pathogenic rs772592456 GRCh37 Chromosome 13, 50123709: 50123709
29 RCBTB1 NM_018191.3(RCBTB1): c.973C> T (p.His325Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs200826424 GRCh38 Chromosome 13, 49549530: 49549530
30 RCBTB1 NM_018191.3(RCBTB1): c.973C> T (p.His325Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs200826424 GRCh37 Chromosome 13, 50123666: 50123666
31 RCBTB1 NM_018191.3(RCBTB1): c.1151A> G (p.His384Arg) single nucleotide variant Uncertain significance rs143970072 GRCh37 Chromosome 13, 50118894: 50118894
32 RCBTB1 NM_018191.3(RCBTB1): c.1151A> G (p.His384Arg) single nucleotide variant Uncertain significance rs143970072 GRCh38 Chromosome 13, 49544758: 49544758
33 RCBTB1 NM_018191.3(RCBTB1): c.1164G> T (p.Leu388Phe) single nucleotide variant Pathogenic/Likely pathogenic rs879255547 GRCh38 Chromosome 13, 49544745: 49544745
34 RCBTB1 NM_018191.3(RCBTB1): c.1164G> T (p.Leu388Phe) single nucleotide variant Pathogenic/Likely pathogenic rs879255547 GRCh37 Chromosome 13, 50118881: 50118881
35 RCBTB1 NM_018191.3(RCBTB1): c.1202C> T (p.Ser401Leu) single nucleotide variant Uncertain significance rs556664001 GRCh38 Chromosome 13, 49541798: 49541798
36 RCBTB1 NM_018191.3(RCBTB1): c.1202C> T (p.Ser401Leu) single nucleotide variant Uncertain significance rs556664001 GRCh37 Chromosome 13, 50115934: 50115934
37 CNGB1 NM_001297.4(CNGB1): c.262C> T (p.Gln88Ter) single nucleotide variant Likely pathogenic rs878853394 GRCh37 Chromosome 16, 57998062: 57998062
38 CNGB1 NM_001297.4(CNGB1): c.262C> T (p.Gln88Ter) single nucleotide variant Likely pathogenic rs878853394 GRCh38 Chromosome 16, 57964158: 57964158
39 RP1 NM_006269.1(RP1): c.2032C> T (p.Gln678Ter) single nucleotide variant Likely pathogenic rs878853328 GRCh38 Chromosome 8, 54625914: 54625914
40 RP1 NM_006269.1(RP1): c.2032C> T (p.Gln678Ter) single nucleotide variant Likely pathogenic rs878853328 GRCh37 Chromosome 8, 55538474: 55538474
41 CNGA1 NM_001142564.1(CNGA1): c.1747C> T (p.Arg583Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199584830 GRCh38 Chromosome 4, 47936954: 47936954
42 CNGA1 NM_001142564.1(CNGA1): c.1747C> T (p.Arg583Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199584830 GRCh37 Chromosome 4, 47938971: 47938971
43 MERTK NM_006343.2(MERTK): c.2180G> A (p.Arg727Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs878853354 GRCh38 Chromosome 2, 112019513: 112019513
44 MERTK NM_006343.2(MERTK): c.2180G> A (p.Arg727Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs878853354 GRCh37 Chromosome 2, 112777090: 112777090
45 USH2A NM_206933.2(USH2A): c.6118T> G (p.Cys2040Gly) single nucleotide variant Uncertain significance rs878853412 GRCh38 Chromosome 1, 216048579: 216048579
46 USH2A NM_206933.2(USH2A): c.6118T> G (p.Cys2040Gly) single nucleotide variant Uncertain significance rs878853412 GRCh37 Chromosome 1, 216221921: 216221921
47 PDE6B NM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter) single nucleotide variant Pathogenic rs876657718 GRCh38 Chromosome 4, 625917: 625917
48 PDE6B NM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter) single nucleotide variant Pathogenic rs876657718 GRCh37 Chromosome 4, 619706: 619706
49 USH2A NM_206933.2(USH2A): c.12145G> A (p.Ala4049Thr) single nucleotide variant Uncertain significance rs143696882 GRCh38 Chromosome 1, 215680298: 215680298
50 USH2A NM_206933.2(USH2A): c.12145G> A (p.Ala4049Thr) single nucleotide variant Uncertain significance rs143696882 GRCh37 Chromosome 1, 215853640: 215853640

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 179965 4 1 4500000 Copy number PDE6B Retinitis pigmentosa
3 132542 19 59310648 59326954 Microdeletion PRPF31 Retinitis pigmentosa
4 219465 7 127100000 129200000 Gain or loss IMPDH1 Retinitis pigmentosa
5 214787 6 66095891 66473839 Deletion EYS 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:

38
# 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 cell projection GO:0042995 9.85 FAM161A RHO RP1 RPGR TULP1 USH2A
2 cilium GO:0005929 9.73 FAM161A RP1 RPGR TULP1
3 ciliary basal body GO:0036064 9.58 FAM161A RPGR USH2A
4 photoreceptor connecting cilium GO:0032391 9.5 FAM161A RP1 USH2A
5 photoreceptor inner segment GO:0001917 9.5 CERKL CRB1 FAM161A RHO RP1 TULP1
6 photoreceptor disc membrane GO:0097381 9.46 ABCA4 PDE6A PDE6B RHO
7 photoreceptor outer segment membrane GO:0042622 9.43 CNGA1 RHO ROM1
8 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 15)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.86 CNGA1 CRX EYS CLRN1 ABCA4 FAM161A
2 retina development in camera-type eye GO:0060041 9.76 MERTK PDE6A PDE6B PRPH2 RHO RP1
3 photoreceptor cell maintenance GO:0045494 9.73 ABCA4 CLRN1 RHO RP1 TULP1 USH2A
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.71 CNGA1 PDE6A PDE6B RHO
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 response to light stimulus GO:0009416 9.55 RHO RPE65
12 eye photoreceptor cell development GO:0042462 9.54 CRB1 TULP1
13 cellular response to light stimulus GO:0071482 9.52 RHO RP1
14 detection of light stimulus GO:0009583 9.49 PDE6B RHO
15 response to stimulus GO:0050896 9.47 ABCA4 CLRN1 CNGA1 CRX EYS FAM161A

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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