RP
MCID: RTN008
MIFTS: 79

Retinitis Pigmentosa (RP)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa

MalaCards integrated aliases for Retinitis Pigmentosa:

Name: Retinitis Pigmentosa 57 12 73 20 43 58 72 36 29 54 6 44 15 37 39 70
Rp 57 20 43 72
Rod-Cone Dystrophy 43 72 6
Autosomal Recessive Retinitis Pigmentosa 29 6
Retinitis Pigmentosa, Autosomal Recessive 39
Retinitis Pigmentosa Autosomal Recessive 72
Pericentral Pigmentary Retinopathy 12
Non-Syndromic Retinitis Pigmentosa 72
Tapetoretinal Degeneration 43
Retinitis Pigmentosa 1 70
Pigmentary Retinopathy 43
Arrp 72
Rcd 72

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive most frequent, autosomal dominant next, and x-linked recessive least frequent



Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:10584
OMIM® 57 268000
KEGG 36 H00527
NCIt 50 C85045
SNOMED-CT 67 155113002
ICD10 32 H35.52
MESH via Orphanet 45 D012174
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C0035334
Orphanet 58 ORPHA791
MedGen 41 C0035334
UMLS 70 C0035334 C0220701

Summaries for Retinitis Pigmentosa

MedlinePlus Genetics : 43 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.The first sign of retinitis pigmentosa is usually a loss of night vision, which becomes apparent in childhood. Problems with night vision can make it difficult to navigate in low light. Later, the disease causes blind spots to develop in the side (peripheral) vision. Over time, these blind spots merge to produce tunnel vision. The disease progresses over years or decades to affect central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In adulthood, many people with retinitis pigmentosa become legally blind.The signs and symptoms of retinitis pigmentosa are most often limited to vision loss. When the disorder occurs by itself, it is described as nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.Less commonly, retinitis pigmentosa occurs as part of syndromes that affect other organs and tissues in the body. These forms of the disease are described as syndromic. The most common form of syndromic retinitis pigmentosa is Usher syndrome, which is characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis pigmentosa is also a feature of several other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and neuropathy, ataxia, and retinitis pigmentosa (NARP).

MalaCards based summary : Retinitis Pigmentosa, also known as rp, is related to cone-rod dystrophy 2 and usher syndrome. 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 E have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are intellectual disability and nystagmus

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.

GARD : 20 Retinitis pigmentosa (RP) is a group of inherited eye 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.

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) (Updated 05-Apr-2021)

KEGG : 36 Retinitis pigmentosa (RP) is a group of inherited progressive retinal diseases characterized by progressive peripheral vision loss and night vision difficulties. RP can be divided into syndromic (40 %) and non-syndromic (60 %) forms. The most frequent forms of syndromic RP are Usher syndrome and Bardet-Biedl syndrome. Mutations in more than 50 genes are known to cause non-syndromic RP. Non-syndromic RP can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

UniProtKB/Swiss-Prot : 72 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.
Retinitis pigmentosa autosomal recessive: 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 : 73 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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 952)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 36.0 USH2A RPGR RP2 RP1 ROM1 RHO
2 usher syndrome 35.6 USH2A RPGR ROM1 RHO PRPH2 PRPF3
3 retinitis 35.2 USH2A RPGR RP2 RP1 ROM1 RHO
4 fundus dystrophy 35.0 USH2A RPGR RP2 RP1 ROM1 RHO
5 retinitis pigmentosa 1 34.9 RP1 ROM1 RHO PRPH2 PDE6G PDE6A
6 retinal degeneration 34.7 USH2A RPGR RP2 RP1 ROM1 RHO
7 leber plus disease 34.7 USH2A RPGR RP2 ROM1 RHO RBP3
8 retinal disease 34.6 USH2A RPGR ROM1 RHO RBP3 PRPH2
9 usher syndrome, type i 34.6 USH2A RPGR ROM1 RHO IMPDH1 EYS
10 retinitis pigmentosa 25 34.4 RPGR PRPH2 PDE6G PDE6A EYS CRB1
11 bardet-biedl syndrome 34.4 USH2A RPGR ROM1 RHO PRPH2 PDE6A
12 usher syndrome, type iiia 34.4 USH2A ROM1 PRPF3 PDE6A LRAT IMPDH1
13 retinitis pigmentosa 39 34.2 USH2A RPGR PDE6G PDE6A CNGA1
14 retinitis pigmentosa 7 34.2 RPGR ROM1 PRPH2 PDE6A
15 newfoundland rod-cone dystrophy 34.1 RHO PRPH2 LRAT
16 leber congenital amaurosis 4 34.0 PDE6A LRAT IMPDH1 CRX CRB1
17 retinitis pigmentosa 4 34.0 RPGR RP2 RHO
18 retinitis pigmentosa 20 33.9 RPGR LRAT EYS
19 retinitis pigmentosa 28 33.9 RPGR CRX C8orf37
20 retinitis pigmentosa 31 33.9 RPGR PRPF3 C8orf37
21 senior-loken syndrome 1 33.9 USH2A RPGR RHO PRPH2 IMPDH1 CRX
22 usher syndrome type 2 33.8 USH2A RPGR RHO PRPH2 PDE6A EYS
23 leber congenital amaurosis 3 33.7 LRAT IMPDH1 CRX CRB1
24 retinitis pigmentosa 57 33.7 PDE6G C8orf37
25 stargardt disease 33.7 USH2A RPGR ROM1 RHO PRPH2 PRPF3
26 night blindness 33.7 USH2A RPGR RP2 RHO RBP3 PRPH2
27 retinitis pigmentosa 29 33.7 PDE6A EYS CNGA1
28 retinitis pigmentosa 55 33.6 C8orf37 ARL6
29 cone dystrophy 33.6 USH2A RPGR RP1 ROM1 RHO PRPH2
30 congenital stationary night blindness 33.5 USH2A RPGR ROM1 RHO RBP3 PRPH2
31 retinitis pigmentosa 34 33.5 RPGR CRX
32 late-onset retinal degeneration 33.5 USH2A RPGR RHO PRPH2 CRX CRB1
33 macular degeneration, age-related, 1 33.4 USH2A RPGR ROM1 RHO RBP3 PRPH2
34 retinitis pigmentosa 61 33.4 CLRN1 C8orf37
35 cone-rod dystrophy 6 33.4 RPGR PRPH2 PDE6G PDE6A
36 retinitis pigmentosa 63 33.4 CRX C8orf37
37 retinitis pigmentosa 71 33.4 USH2A C8orf37
38 eye disease 33.3 USH2A RPGR RP2 ROM1 RHO RBP3
39 nonsyndromic retinitis pigmentosa 33.2 USH2A CLRN1 ARL6
40 usher syndrome, type iic 33.1 USH2A PDE6A CLRN1
41 fundus albipunctatus 33.0 RPGR ROM1 RHO RBP3 PRPH2 LRAT
42 usher syndrome, type ij 32.9 USH2A CLRN1
43 usher syndrome, type iiib 32.9 USH2A CLRN1
44 bietti crystalline corneoretinal dystrophy 32.9 RPGR EYS CLRN1
45 hereditary retinal dystrophy 32.8 USH2A RHO PRPH2 PDE6A EYS CRX
46 usher syndrome, type iid 32.8 USH2A CLRN1
47 joubert syndrome 1 32.6 RPGR RP2 ROM1 RHO IMPDH1 CRX
48 yemenite deaf-blind hypopigmentation syndrome 32.5 USH2A RHO
49 vitelliform macular dystrophy 32.5 USH2A RPGR ROM1 RHO PRPH2 PDE6A
50 achromatopsia 32.5 USH2A RPGR RHO PRPH2 PDE6A EYS

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:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
5 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
6 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
7 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
8 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
9 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
10 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
11 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
12 abnormal retinal vascular morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008046
13 abnormal testis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0000035
14 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
15 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
16 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
17 progressive night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007675
18 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
19 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
20 hyperinsulinemia 58 31 frequent (33%) Frequent (79-30%) HP:0000842
21 ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000602
22 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
23 keratoconus 58 31 frequent (33%) Frequent (79-30%) HP:0000563
24 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
25 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
26 visual impairment 58 Very frequent (99-80%)
27 nyctalopia 31 HP:0000662
28 rod-cone dystrophy 31 HP:0000510
29 constriction of peripheral visual field 31 HP:0001133
30 abnormality of fundus pigmentation 31 HP:0031605

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
fundal pigment lumps

Clinical features from OMIM®:

268000 (Updated 05-Apr-2021)

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.53 RPGR
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-117 9.53 EYS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-12 9.53 PDE6G
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-125 9.53 PDE6G
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.53 RPGR
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.53 PDE6G
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.53 CRX
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.53 PDE6G
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.53 PDE6G
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-6 9.53 PDE6G
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 9.53 RPGR
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.53 PDE6G
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 9.53 CRX
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.53 EYS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.53 CRX RPGR

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ARL6 C8orf37 CLRN1 CRB1 CRX LRAT
2 vision/eye MP:0005391 9.58 ARL6 C8orf37 CLRN1 CRB1 CRX IMPDH1
3 pigmentation MP:0001186 9.43 CRB1 CRX PRPF3 PRPH2 RHO RPGR

Drugs & Therapeutics for Retinitis Pigmentosa

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

(show top 50) (show all 107)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 3 1406-66-2
2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
3
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 68-26-8, 11103-57-4 445354
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
5
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 5281243
6
Beta carotene Approved, Nutraceutical Phase 2, Phase 3 7235-40-7 5280489
7 Tocotrienol Investigational Phase 3 6829-55-6
8 Retinol palmitate Phase 3
9 retinol Phase 3
10 Tocotrienols Phase 3
11 Tocopherols Phase 3
12 Antioxidants Phase 3
13 Protective Agents Phase 3
14 Calciferol Phase 3
15 Carotenoids Phase 2, Phase 3
16 Antihypertensive Agents Phase 3
17 Isopropyl unoprostone Phase 3
18
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
19
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
20
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
21
Povidone Approved Phase 2 9003-39-8 131751496
22
Povidone-iodine Approved Phase 2 25655-41-8
23
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
24
Iodine Approved, Investigational Phase 2 7553-56-2 807
25
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
26
Carbidopa Approved Phase 2 28860-95-9 34359
27
Levodopa Approved Phase 2 59-92-7 6047
28
Sodium citrate Approved, Investigational Phase 2 68-04-2
29
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
30
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
31
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
32
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
33
Cadexomer iodine Experimental Phase 2 94820-09-4
34 Gastrointestinal Agents Phase 2
35 Antiemetics Phase 2
36 Hormone Antagonists Phase 2
37 Hormones Phase 2
38 glucocorticoids Phase 2
39 Antineoplastic Agents, Hormonal Phase 2
40 Anti-Inflammatory Agents Phase 2
41 BB 1101 Phase 2
42 Omega 3 Fatty Acid Phase 2
43 Anticonvulsants Phase 2
44 Psychotropic Drugs Phase 2
45 Soy Bean Phase 2
46 Pharmaceutical Solutions Phase 2
47 Ophthalmic Solutions Phase 2
48 Proxymetacaine Phase 2
49 Mitogens Phase 2
50 Adrenergic alpha-Agonists Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 180)
# Name Status NCT ID Phase Drugs
1 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
2 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
3 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
4 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
5 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
6 Cord Blood Platelet-rich Plasma (CB-PRP) in Retinitis Pigmentosa Recruiting NCT04636853 Phase 3
7 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Patients With Retinitis Pigmentosa Recruiting NCT01680510 Phase 2, Phase 3
8 Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Not yet recruiting NCT04671433 Phase 3
9 Follow-up Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene Not yet recruiting NCT04794101 Phase 3
10 Phase III Clinical Study of UF-021 for Retinitis Pigmentosa - Evaluation for a Comparative Double Masked Placebo Controlled Study Period and a Continuous Administration Period Terminated NCT01786395 Phase 3 UF-021;Placebo
11 Argus® II Retinal Stimulation System Feasibility Protocol Unknown status NCT00407602 Phase 2
12 An Open Labeled Clinical Study to Evaluate the Safety and Efficacy OF Autologous Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) in Retinitis Pigmentosa. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01914913 Phase 1, Phase 2
13 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
14 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Unknown status NCT01530659 Phase 2 NT-501
15 Prospective Non-randomised Exploratory Study to Assess the Safety and Efficacy of Aflibercept (Eylea) in Cystoid Macular Oedema (CMO) Associated With Retinitis Pigmentosa (RP) Unknown status NCT02661711 Phase 2 Aflibercept
16 An Open Label Dose Escalation Phase 1 Clinical Trial of Retinal Gene Therapy for Choroideraemia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
17 A Phase II Multiple Site, Randomized, Placebo-Controlled Trial of Oral Valproic Acid for Autosomal Dominant Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
18 A Dose Escalation (Phase 1), and Dose Expansion (Phase 2/3) Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Using an Adeno-Associated Viral Vector (AAV8) Encoding Retinitis Pigmentosa GTPase Regulator (RPGR) Completed NCT03116113 Phase 1, Phase 2
19 Investigation of Effectiveness and Safety of High Dose Docosahexaenoic Acid (DHA) in X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
20 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
21 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
22 A Prospective, Multicenter, Open-Label, Single-Arm Study of the Safety and Tolerability of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT02320812 Phase 1, Phase 2
23 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Acuity as the Primary Outcome Completed NCT00447993 Phase 2 NT-501;NT-501
24 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Field Sensitivity as the Primary Outcome Completed NCT00447980 Phase 2 NT-501;NT-501
25 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
26 Safety Issues of Peribulbar Injection of Umbilical Cord Mesenchymal Stem Cell (UC-MSC) in Patients With Retinitis Pigmentosa Completed NCT04315025 Phase 1, Phase 2
27 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
28 Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
29 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
30 Nerve Growth Factor Eye Drops as a Novel Treatment for Vision Loss in Patients With Retinitis Pigmentosa: From Preclinical to Clinical Phase II Trial Completed NCT02609165 Phase 2 rhNGF 180 µg/ml eye drops solution;vehicle eye drops
31 A 24 Week Phase Ib/II, Multicenter, Randomized, Controlled, Parallel Group, Dose Ranging Study With a 24 Week Follow-up to Evaluate Safety and Potential Efficacy of 2 Doses (60, 180 µg/ml) of rhNGF Solution vs Vehicle in Patients With RP. Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
32 A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
33 An Open-label, Phase 1/2 Trial of Gene Therapy 4D-125 in Males With X-linked Retinitis Pigmentosa (XLRP) Caused by Mutations in the RPGR Gene Recruiting NCT04517149 Phase 1, Phase 2
34 Investigation of Therapeutic Efficacy and Safety of Umbilical Cord Derived Mesenchymal Stem Cells (UMSCs) for the Management of Retinitis Pigmentosa (RP) Recruiting NCT04763369 Phase 2
35 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
36 STREAM: A Phase 1/2, Open-label, Safety, Tolerability and Preliminary Efficacy Study of Implantation Into One Eye of hESC-derived RPE in Patients With Retinitis Pigmentosa Due to Monogenic Mutation Recruiting NCT03963154 Phase 1, Phase 2
37 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
38 Safety and Efficacy of NPI-001 Tablets Versus Placebo for Treatment of Retinitis Pigmentosa Associated With Usher Syndrome Recruiting NCT04355689 Phase 1, Phase 2 NPI-001
39 PIGMENT - PDE6A Gene Therapy for Retinitis Pigmentosa Recruiting NCT04611503 Phase 1, Phase 2 subretinal injection of rAAV.hPDE6A
40 Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression Recruiting NCT03328130 Phase 1, Phase 2
41 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
42 Phase 1/2, Safety and Efficacy Trial of BS01, a Recombinant Adeno-Associated Virus Vector Expressing ChronosFP in Patients With Retinitis Pigmentosa Recruiting NCT04278131 Phase 1, Phase 2 BS01
43 The Efficacy and Safety of Oral Minocycline in the Treatment of Retinitis Pigmentosa: An Open-label Clinical Trial Recruiting NCT04068207 Phase 2 Minocycline
44 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein) Recruiting NCT04120883 Phase 1, Phase 2 Hydroxychloroquine lower dose;Hydroxychloroquine higher dose
45 First-in-human Phase I/IIa, Open-Label, Prospective Study of the Safety and Tolerability of Subretinally Transplanted Human Retinal Progenitor Cells (hRPC) in Patients With Retinitis Pigmentosa (RP) Recruiting NCT02464436 Phase 1, Phase 2 hRPC
46 An Open-label First-in-human Single Ascending Dose Study to Explore Safety, Tolerability and Efficacy of Subretinal Administration of CPK850 Gene Therapy in Patients With Retinitis Pigmentosa Due to Mutations in the Retinaldehyde Binding Protein 1 (RLBP1) Gene Recruiting NCT03374657 Phase 1, Phase 2
47 An Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations Recruiting NCT03316560 Phase 1, Phase 2
48 Sildenafil for Treatment of Choroidal Ischemia Recruiting NCT04356716 Phase 2 Sildenafil
49 Phase I/IIa, Open-Label, Dose-Escalation Study of Safety and Tolerability of Intravitreal RST-001 in Patients With Advanced Retinitis Pigmentosa (RP) Active, not recruiting NCT02556736 Phase 1, Phase 2 RST-001
50 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2-.RPGR) for Gene Therapy of Adults and Children With X-linked Retinitis Pigmentosa Owing to Defects in Retinitis Pigmentosa GTPase Regulator (RPGR) Active, not recruiting NCT03252847 Phase 1, Phase 2

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
2 Autosomal Recessive Retinitis Pigmentosa 29

Anatomical Context for Retinitis Pigmentosa

MalaCards organs/tissues related to Retinitis Pigmentosa:

40
Retina, Eye, Bone Marrow, Bone, Brain, Testis, Cortex
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 8691)
# Title Authors PMID Year
1
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 57 6 54 61
11139241 2001
2
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 6 57 54 61
10932196 2000
3
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 61 6 57
26261414 2015
4
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. 57 6 61
17564971 2007
5
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 6 57 61
15557452 2004
6
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 6 57 61
9326941 1997
7
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. 57 6 61
1783394 1991
8
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. 6 54 61
20300561 2010
9
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. 6 54 61
19074801 2009
10
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 6 54 61
19006237 2009
11
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. 6 61 54
18641288 2008
12
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa. 61 54 6
18412284 2008
13
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. 57 61 54
18376416 2008
14
Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. 61 54 6
17932117 2008
15
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. 54 61 6
18055816 2007
16
Identification and characterization of a novel RPGR isoform in human retina. 61 54 6
17405150 2007
17
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. 54 6 61
17620573 2007
18
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. 61 54 6
17480003 2007
19
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. 6 54 61
17335001 2007
20
RPGR mutation analysis and disease: an update. 54 6 61
17195164 2007
21
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. 54 61 6
17325180 2007
22
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. 61 54 6
17251446 2007
23
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 6 54 61
17296898 2007
24
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 61 6 54
17085681 2006
25
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. 61 54 6
17093403 2006
26
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. 6 54 61
16708387 2006
27
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. 6 61 54
16671097 2006
28
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. 61 54 6
16543197 2006
29
A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. 6 54 61
16387007 2006
30
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. 61 54 6
16280978 2005
31
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. 6 54 61
15851576 2005
32
Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. 54 61 6
15452722 2005
33
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 6 61 54
15563508 2005
34
Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. 6 54 61
15509574 2005
35
CRB1 mutation spectrum in inherited retinal dystrophies. 54 61 6
15459956 2004
36
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 54 61 6
15325563 2004
37
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. 54 61 6
15111602 2004
38
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 54 61 6
15090652 2004
39
Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. 54 6 61
14769795 2004
40
Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? 54 61 6
15032968 2004
41
Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. 6 61 54
14566651 2003
42
Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. 54 6 61
14609921 2003
43
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. 6 54 61
12796249 2003
44
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 54 61 6
11992260 2002
45
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. 6 54 61
11875049 2002
46
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. 61 54 6
11875050 2002
47
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. 54 6 61
11773002 2002
48
Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa. 54 6 61
11754050 2001
49
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. 54 6 61
11726554 2001
50
Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. 6 54 61
11527955 2001

Variations for Retinitis Pigmentosa

ClinVar genetic disease variations for Retinitis Pigmentosa:

6 (show top 50) (show all 8058)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RP9 NM_203288.2(RP9):c.509A>G (p.Asp170Gly) SNV Pathogenic 3335 rs104894039 GRCh37: 7:33135003-33135003
GRCh38: 7:33095391-33095391
2 IMPG2 NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter) SNV Pathogenic 3549 rs267606875 GRCh37: 3:100961664-100961664
GRCh38: 3:101242820-101242820
3 IDH3B NM_006899.5(IDH3B):c.589del (p.Ile197fs) Deletion Pathogenic 5505 rs1600169350 GRCh37: 20:2641179-2641179
GRCh38: 20:2660533-2660533
4 IDH3B NM_006899.5(IDH3B):c.395T>C (p.Leu132Pro) SNV Pathogenic 5506 rs137853020 GRCh37: 20:2641558-2641558
GRCh38: 20:2660912-2660912
5 CRB1 CRB1, ALU INS, NT2320 Insertion Pathogenic 5729 GRCh37:
GRCh38:
6 CRB1 NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) SNV Pathogenic 5730 rs62635656 GRCh37: 1:197404115-197404115
GRCh38: 1:197434985-197434985
7 CRB1 NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter) SNV Pathogenic 5731 rs62635655 GRCh37: 1:197403976-197403976
GRCh38: 1:197434846-197434846
8 CRB1 NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg) SNV Pathogenic 5737 rs62636291 GRCh37: 1:197404534-197404534
GRCh38: 1:197435404-197435404
9 CRB1 NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) Deletion Pathogenic 5740 rs281865175 GRCh37: 1:197446905-197446914
GRCh38: 1:197477775-197477784
10 RP1 NM_006269.2(RP1):c.2280_2284TAAAT[1] (p.Leu762fs) Microsatellite Pathogenic 5966 rs869320726 GRCh37: 8:55538722-55538726
GRCh38: 8:54626162-54626166
11 RP1 NM_006269.2(RP1):c.2287_2290del (p.Asn763fs) Deletion Pathogenic 5967 rs869320727 GRCh37: 8:55538727-55538730
GRCh38: 8:54626167-54626170
12 RP1 NM_006269.2(RP1):c.1458_1461dup (p.Glu488Ter) Duplication Pathogenic 5971 rs869320728 GRCh37: 8:55537899-55537900
GRCh38: 8:54625339-54625340
13 TULP1 NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro) SNV Pathogenic 7357 rs121909073 GRCh37: 6:35471400-35471400
GRCh38: 6:35503623-35503623
14 TULP1 NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys) SNV Pathogenic 7359 rs121909075 GRCh37: 6:35467877-35467877
GRCh38: 6:35500100-35500100
15 TULP1 TULP1, IVS2DS, G-A, +1 SNV Pathogenic 7360 GRCh37:
GRCh38:
16 TULP1 TULP1, IVS14DS, G-A, +1 SNV Pathogenic 7361 GRCh37:
GRCh38:
17 TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) SNV Pathogenic 7362 rs121909076 GRCh37: 6:35471593-35471593
GRCh38: 6:35503816-35503816
18 TULP1 NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp) SNV Pathogenic 7363 rs121909077 GRCh37: 6:35467809-35467809
GRCh38: 6:35500032-35500032
19 TULP1 NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs) Deletion Pathogenic 7364 rs1581734819 GRCh37: 6:35466212-35466222
GRCh38: 6:35498435-35498445
20 TULP1 NM_003322.6(TULP1):c.718+2T>C SNV Pathogenic 7365 rs1581742970 GRCh37: 6:35477409-35477409
GRCh38: 6:35509632-35509632
21 CNGB1 NM_001297.5(CNGB1):c.2978G>T (p.Gly993Val) SNV Pathogenic 8897 rs121918532 GRCh37: 16:57931817-57931817
GRCh38: 16:57897913-57897913
22 CNGB1 NM_001297.5(CNGB1):c.3462+1G>A SNV Pathogenic 8898 rs1567360969 GRCh37: 16:57921758-57921758
GRCh38: 16:57887854-57887854
23 RP2 NM_006915.3(RP2):c.16_18del (p.Ser6del) Deletion Pathogenic 10544 rs137852284 GRCh37: X:46696550-46696552
GRCh38: X:46837115-46837117
24 RP2 NM_006915.3(RP2):c.353G>A (p.Arg118His) SNV Pathogenic 10546 rs28933687 GRCh37: X:46713161-46713161
GRCh38: X:46853726-46853726
25 RP2 NM_006915.3(RP2):c.453C>G (p.Tyr151Ter) SNV Pathogenic 10547 rs104894926 GRCh37: X:46713261-46713261
GRCh38: X:46853826-46853826
26 RP2 RP2, 1-BP DEL Deletion Pathogenic 10548 GRCh37:
GRCh38:
27 RP2 NM_006915.3(RP2):c.353G>T (p.Arg118Leu) SNV Pathogenic 10549 rs28933687 GRCh37: X:46713161-46713161
GRCh38: X:46853726-46853726
28 RP2 RP2, 1-BP INS, 303T Insertion Pathogenic 10550 GRCh37:
GRCh38:
29 RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter) SNV Pathogenic 10551 rs104894927 GRCh37: X:46713166-46713166
GRCh38: X:46853731-46853731
30 RPE65 NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) SNV Pathogenic 13117 rs121917744 GRCh37: 1:68903911-68903911
GRCh38: 1:68438228-68438228
31 RPE65 NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) SNV Pathogenic 13118 rs61752909 GRCh37: 1:68903976-68903976
GRCh38: 1:68438293-68438293
32 RPE65 NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) SNV Pathogenic 13120 rs121917745 GRCh37: 1:68895518-68895518
GRCh38: 1:68429835-68429835
33 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.238G>T (p.Glu80Ter) SNV Pathogenic 16930 rs121909599 GRCh37: 4:47951911-47951911
GRCh38: 4:47949894-47949894
34 CNGA1 , LOC101927157 NM_000087.4(CNGA1):c.427A>T (p.Lys143Ter) SNV Pathogenic 16931 rs121909600 GRCh37: 4:47945220-47945220
GRCh38: 4:47943203-47943203
35 CNGA1 CNGA1, 1-BP DEL, FS655TER Deletion Pathogenic 16933 GRCh37:
GRCh38:
36 OFD1 NM_003611.3(OFD1):c.935+706A>G SNV Pathogenic 101499 rs730880283 GRCh37: X:13768358-13768358
GRCh38: X:13750239-13750239
37 RPE65 NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) SNV Pathogenic 13120 rs121917745 GRCh37: 1:68895518-68895518
GRCh38: 1:68429835-68429835
38 EYS NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) SNV Pathogenic 143111 rs527236064 GRCh37: 6:64488004-64488004
GRCh38: 6:63778111-63778111
39 EYS NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) SNV Pathogenic 143112 rs527236066 GRCh37: 6:64472506-64472506
GRCh38: 6:63762613-63762613
40 EYS NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) SNV Pathogenic 143108 rs527236068 GRCh37: 6:64791763-64791763
GRCh38: 6:64081870-64081870
41 PHF3 , EYS NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) SNV Pathogenic 143115 rs527236067 GRCh37: 6:64431122-64431122
GRCh38: 6:63721226-63721226
42 TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) SNV Pathogenic 7362 rs121909076 GRCh37: 6:35471593-35471593
GRCh38: 6:35503816-35503816
43 RP1 NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) SNV Pathogenic 143134 rs201493928 GRCh37: 8:55537628-55537628
GRCh38: 8:54625068-54625068
44 EYS NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) SNV Pathogenic 208579 rs752683070 GRCh37: 6:66115242-66115242
GRCh38: 6:65405349-65405349
45 CNGB1 NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) SNV Pathogenic 209979 rs201553871 GRCh37: 16:57957231-57957231
GRCh38: 16:57923327-57923327
46 CRB1 NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) SNV Pathogenic 191357 rs863223341 GRCh37: 1:197398685-197398685
GRCh38: 1:197429555-197429555
47 RP1 NM_006269.2(RP1):c.679T>G (p.Phe227Val) SNV Pathogenic 191355 rs863223340 GRCh37: 8:55534740-55534740
GRCh38: 8:54622180-54622180
48 CRB1 NM_201253.3(CRB1):c.1459dup (p.Ser487fs) Duplication Pathogenic 191358 rs863223342 GRCh37: 1:197390414-197390415
GRCh38: 1:197421284-197421285
49 AGBL5 NM_021831.6(AGBL5):c.883G>A (p.Asp295Asn) SNV Pathogenic 242932 rs879253768 GRCh37: 2:27278096-27278096
GRCh38: 2:27055228-27055228
50 AGBL5 NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp) SNV Pathogenic 242933 rs879253769 GRCh37: 2:27278039-27278039
GRCh38: 2:27055171-27055171

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

72
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg41Gln VAR_007946 rs61748436

Copy number variations for Retinitis Pigmentosa from CNVD:

7
# CNVD ID Chromosome 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:

36
# 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 9.96 USH2A RPGR RP2 RP1 ROM1 RHO
2 cilium GO:0005929 9.83 RPGR RP2 RP1 EYS ARL6
3 photoreceptor inner segment GO:0001917 9.63 USH2A RP1 RHO PRPH2 CRB1 C8orf37
4 photoreceptor disc membrane GO:0097381 9.5 RHO PDE6G PDE6A
5 periciliary membrane compartment GO:1990075 9.4 USH2A RP2
6 interphotoreceptor matrix GO:0033165 9.37 RBP3 EYS
7 photoreceptor outer segment membrane GO:0042622 9.35 ROM1 RHO PDE6G PDE6A CNGA1
8 photoreceptor outer segment GO:0001750 9.23 RPGR RP1 ROM1 RHO PRPH2 EYS

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.8 USH2A RPGR RP1 ROM1 RHO PRPH2
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.73 RHO PDE6G PDE6A CNGA1
3 photoreceptor cell maintenance GO:0045494 9.72 USH2A RP1 RHO CRB1 CLRN1
4 detection of light stimulus involved in visual perception GO:0050908 9.71 ROM1 PRPH2 EYS CRB1
5 retinoid metabolic process GO:0001523 9.69 RHO RBP3 LRAT
6 cellular response to light stimulus GO:0071482 9.67 RP1 RHO CRB1
7 photoreceptor cell outer segment organization GO:0035845 9.67 RP1 ROM1 PRPH2 CRB1
8 sensory perception of light stimulus GO:0050953 9.65 USH2A RHO CLRN1
9 retina morphogenesis in camera-type eye GO:0060042 9.63 RP1 ROM1 CRB1
10 retina development in camera-type eye GO:0060041 9.63 RP1 ROM1 RHO PRPH2 PDE6A CRB1
11 rhodopsin mediated signaling pathway GO:0016056 9.56 RHO PDE6G PDE6A CNGA1
12 visual perception GO:0007601 9.55 USH2A RPGR RP2 RP1 ROM1 RHO
13 protein heterooligomerization GO:0051291 9.54 ROM1 PRPH2
14 phototransduction, visible light GO:0007603 9.52 RP1 RHO

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.6 USH2A RPGR RP2 RP1 ROM1 RHO
2 cGMP binding GO:0030553 9.26 PDE6G CNGA1
3 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.16 PDE6G PDE6A
4 retinol binding GO:0019841 8.96 RBP3 LRAT

Sources for Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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