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RP
MCID: RTN008
MIFTS: 80

Retinitis Pigmentosa (RP)

Categories: Bone diseases, Ear diseases, Eye diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Retinitis Pigmentosa

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MalaCards integrated aliases for Retinitis Pigmentosa:

Name: Retinitis Pigmentosa 57 11 19 42 58 75 73 28 53 5 43 14 36 38 71
Rp 57 19 42 73
Autosomal Recessive Retinitis Pigmentosa 28 5 16
Rod-Cone Dystrophy 42 73 5
Retinitis Pigmentosa, Autosomal Recessive 38
Retinitis Pigmentosa Autosomal Recessive 73
Pericentral Pigmentary Retinopathy 11
Non-Syndromic Retinitis Pigmentosa 73
Tapetoretinal Degeneration 42
Retinitis Pigmentosa 1 71
Pigmentary Retinopathy 42
Arrp 73
Rcd 73

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive 58 , Autosomal recessive most frequent autosomal dominant next and X-linked recessive least frequent 57

Prevelance:

1-5/10000 58

Age Of Onset:

Adolescent,Adult,Childhood 58

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Bone diseases Nephrological diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:10584
OMIM® 57 268000
NCIt 49 C85045
SNOMED-CT 68 155113002
MESH via Orphanet 44 D012174
ICD10 via Orphanet 32 H35.5
UMLS via Orphanet 72 C0035334
Orphanet 58 ORPHA791
MedGen 40 C0035334
UMLS 71 C0035334 C0220701
Sources

Summaries for Retinitis Pigmentosa

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MedlinePlus Genetics: 42 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 Olfactory Signaling Pathway and Visual phototransduction. The drugs Tocopherol and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are intellectual disability and nystagmus

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 08-Dec-2022)

UniProtKB/Swiss-Prot 73 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.

GARD: 19 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 genetic changes in any of at least 50 genes. Inheritance can be autosomal dominant, autosomal recessive, or X-linked.

Orphanet: 58 Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Disease Ontology: 11 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: 75 Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include... more...
Sources

Related Diseases for Retinitis Pigmentosa

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Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 91 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 Retinitis Pigmentosa 92
Retinitis Pigmentosa 93 Retinitis Pigmentosa 95
Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 1156)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 35.9 USH2A RPGR RP2 RP1 RHO RBP3
2 usher syndrome 35.5 USH2A RPGR RHO PRPH2 PRPF31 PDE6B
3 retinitis 35.2 USH2A RPGR RP2 RP1 RHO PRPH2
4 fundus dystrophy 35.0 USH2A RPGR RP2 RP1 RHO RBP3
5 retinitis pigmentosa 1 34.7 RP1 RHO PRPH2 PRPF31 PDE6A IMPDH1
6 retinal degeneration 34.6 USH2A RPGR RP2 RP1 RHO RBP3
7 bardet-biedl syndrome 34.5 USH2A RPGR RHO PRPH2 PRPF31 PDE6B
8 leber plus disease 34.5 USH2A RPGR RP2 RHO RBP3 PRPH2
9 late-onset retinal degeneration 34.4 USH2A RPGR RHO PRPH2 PRPF31 PDE6B
10 usher syndrome, type i 34.3 USH2A RPGR RHO PDE6B CLRN1 ABCA4
11 night blindness 34.2 USH2A RPGR RP2 RHO RBP3 PRPH2
12 leber congenital amaurosis 4 34.2 PRPH2 PDE6A LRAT IMPDH1 CRX CRB1
13 retinitis pigmentosa 3 34.1 RPGR RP2 ABCA4
14 usher syndrome, type iia 34.0 USH2A RPGR PRPF31 PDE6B CRB1 CLRN1
15 usher syndrome type 2 34.0 USH2A RPGR RHO PRPH2 PRPF31 PDE6B
16 eye disease 34.0 USH2A RPGR RP2 RHO RBP3 PRPH2
17 macular dystrophy, dominant cystoid 34.0 USH2A RPGR RHO RBP3 PDE6B PDE6A
18 retinitis pigmentosa 25 34.0 USH2A RPGR PRPF31 CLRN1
19 retinitis pigmentosa 2 34.0 RPGR RP2 RHO
20 retinitis pigmentosa 26 34.0 RPGR RHO PDE6A CNGA1
21 retinitis pigmentosa 31 34.0 RPGR PRPF31 IMPDH1 CFAP418
22 retinitis pigmentosa 39 34.0 USH2A RPGR PRPF31 ABCA4
23 retinitis pigmentosa 7 33.9 RHO PRPH2 ABCA4
24 retinitis pigmentosa 9 33.9 PRPF31 IMPDH1 CRX
25 senior-loken syndrome 1 33.9 USH2A RPGR RHO PRPH2 PRPF31 IMPDH1
26 cone dystrophy 33.7 USH2A RPGR RHO PRPH2 PRPF31 PDE6G
27 retinitis pigmentosa 86 33.7 USH2A CFAP418
28 newfoundland rod-cone dystrophy 33.7 PRPH2 LRAT
29 retinitis pigmentosa 88 33.6 IMPDH1 CNGA1
30 retinitis pigmentosa 30 33.6 RPGR PRPF31
31 retinitis pigmentosa 84 33.6 RPGR CFAP418
32 retinitis pigmentosa 85 33.6 RPGR PDE6A
33 retinitis pigmentosa 40 33.6 RPGR PDE6B
34 macular degeneration, age-related, 1 33.6 USH2A RPGR RHO RBP3 PRPH2 PRPF31
35 retinal disease 33.6 USH2A RPGR RHO PRPH2 PDE6B CRX
36 retinitis pigmentosa 43 33.6 PDE6A CFAP418
37 retinitis pigmentosa 17 33.6 RPGR PRPF31
38 retinitis pigmentosa 38 33.6 USH2A RPGR
39 retinitis pigmentosa 33 33.6 PRPF31 CRX
40 leber congenital amaurosis 3 33.6 LRAT IMPDH1 CRX CRB1
41 retinitis pigmentosa 19 33.5 RPGR ABCA4
42 stargardt disease 33.5 USH2A RPGR RHO RBP3 PRPH2 PRPF31
43 retinitis pigmentosa 74 33.5 RPGR CFAP418
44 retinitis pigmentosa 91 33.5 CRX ABCA4
45 retinitis pigmentosa 12 33.5 RPGR CRB1
46 retinitis pigmentosa 54 33.5 RPGR CFAP418
47 congenital stationary night blindness 33.5 USH2A RPGR RHO RBP3 PRPH2 PRPF31
48 retinitis pigmentosa 61 33.4 CLRN1 CFAP418
49 retinitis pigmentosa 29 33.4 PDE6G PDE6A
50 fundus albipunctatus 33.4 USH2A RPGR RHO RBP3 PRPH2 PRPF31

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



Diseases related to Retinitis Pigmentosa
Sources

Symptoms & Phenotypes for Retinitis Pigmentosa

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Human phenotypes related to Retinitis Pigmentosa:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
fundal pigment lumps

Clinical features from OMIM®:

268000 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ABCA4 ARL6 CLRN1 CNGA1 CRB1 CRX
2 no effect GR00402-S-2 10.14 ABCA4 ARL6 CRB1 CRX IMPDH1 LRAT

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 ARL6 CFAP418 CLRN1 CRB1 CRX
2 pigmentation MP:0001186 9.86 ABCA4 CRB1 CRX PDE6B PRPF31 PRPH2
3 cardiovascular system MP:0005385 9.65 ABCA4 ARL6 CRB1 CRX PDE6A PDE6B
4 vision/eye MP:0005391 9.6 ABCA4 ARL6 CFAP418 CLRN1 CRB1 CRX
Sources

Drugs & Therapeutics for Retinitis Pigmentosa

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

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 3 1406-66-2
2
Acetylcysteine Approved, Investigational Phase 3 616-91-1 581 12035
3
Beta carotene Approved, Nutraceutical Phase 2, Phase 3 6811-73-0, 7235-40-7 10256668 5280489
4
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 5281243
5
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 3 59-02-9, 10191-41-0 2116 14985
6
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8 5280382 445354
7
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 3 67-97-0, 1406-16-2 5280795 10883523
8
Tocotrienol Investigational Phase 3 6829-55-6 9929901
9 Carotenoids Phase 2, Phase 3
10 Retinol palmitate Phase 3
11 Tocotrienols Phase 3
12 Tocopherols Phase 3
13 Calciferol Phase 3
14 Expectorants Phase 3
15 Antidotes Phase 3
16 N-monoacetylcystine Phase 3
17 Respiratory System Agents Phase 3
18 Antioxidants Phase 3
19 Protective Agents Phase 3
20 Antihypertensive Agents Phase 3
21
Isopropyl unoprostone Phase 3 3777
22
Aflibercept Approved Phase 2 862111-32-8 124490314
23
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
24
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3 3680
25
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 3003 5743
26
Carbidopa Approved Phase 2 28860-95-9 34359 38101
27
Levodopa Approved Phase 2 59-92-7, 63-84-3 6047
28
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
29
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1, 93107-08-5 2764
30
Povidone-iodine Approved Phase 2 25655-41-8
31
Iodine Approved, Investigational Phase 2 7553-56-2 807
32
Povidone K30 Approved, Experimental, Withdrawn Phase 2 9003-39-8 6917 131751496
33
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
34
Minocycline Approved, Investigational Phase 2 10118-90-8, 13614-98-7 54675783 5281021
35
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
36
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
37
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
38
Sildenafil Approved, Investigational Phase 2 139755-83-2, 171599-83-0 5212 135398744
39
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
40
Cadexomer iodine Experimental Phase 2 94820-09-4
41
Varespladib methyl Investigational Phase 2 172733-08-3
42 Angiogenesis Inhibitors Phase 2
43 Immunologic Factors Phase 2
44 Adjuvants, Immunologic Phase 2
45 Antineoplastic Agents, Hormonal Phase 2
46 Hormones Phase 2
47 Hormone Antagonists Phase 2
48 Antiemetics Phase 2
49 glucocorticoids Phase 2
50 BB 1101 Phase 2

Interventional clinical trials:

(show top 50) (show all 206)
# 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 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 Unknown status NCT01680510 Phase 2, Phase 3
3 Cord Blood Platelet-rich Plasma (CB-PRP) in Retinitis Pigmentosa Completed NCT04636853 Phase 3
4 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
5 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
6 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
7 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
8 Phase 3 Randomized, Controlled Study of AAV5-RPGR for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene 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 Recruiting NCT04794101 Phase 3
10 The Effect of Wharton Jelly-derived Mesenchymal Stem Cells and Stem Cell Exosomes on Visual Functions in Patients With Retinitis Pigmentosa Recruiting NCT05413148 Phase 2, Phase 3
11 A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss Active, not recruiting NCT05176717 Phase 2, Phase 3 QR-421a
12 A Double-Masked, Randomized, Controlled, Multiple-Dose Study to Evaluate the Efficacy, Safety and Tolerability of Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene (Sirius) Active, not recruiting NCT05158296 Phase 2, Phase 3 Ultevursen
13 A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects With Choroideremia Previously Treated With Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects With X-Linked Retinitis Pigmentosa Previously Treated With Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study Enrolling by invitation NCT03584165 Phase 3
14 NAC Attack, A Phase III, Multicenter, Randomized, Parallel, Double Masked, Placebo-Controlled Study Evaluating the Efficacy and Safety of Oral N-Acetylcysteine in Patients With Retinitis Pigmentosa Not yet recruiting NCT05537220 Phase 3 N-acetylcysteine;Placebo
15 A Phase 2/3, Randomized, Controlled, Masked, Multi-center Study to Evaluate the Efficacy, Safety and Tolerability of Two Doses of AGTC-501, a Recombinant Adeno-associated Virus Vector Expressing RPGR (rAAV2tYF-GRK1-RPGR), Compared to an Untreated Control Group in Male Subjects With X-linked Retinitis Pigmentosa Confirmed by a Pathogenic Variant in the RPGR Gene Not yet recruiting NCT04850118 Phase 2, Phase 3
16 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
17 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
18 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Unknown status NCT02709876 Phase 1, Phase 2
19 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
20 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
21 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Unknown status NCT02837640 Phase 2 levodopa-carbidopa
22 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
23 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) Completed NCT03252847 Phase 1, Phase 2
24 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
25 Safety Issues of Peribulbar Injection of Umbilical Cord Mesenchymal Stem Cell (UC-MSC) in Patients With Retinitis Pigmentosa Completed NCT04315025 Phase 1, Phase 2
26 A Phase 2 Study of the Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT04604899 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 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 Completed NCT03780257 Phase 1, Phase 2 QR-421a
29 A Prospective, Multicenter, Randomized, Study of the Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT03073733 Phase 2
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 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
32 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
33 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
34 A Phase I/IIa Open Label, Dose-Escalation Study to Evaluate the Safety and Tolerability of Intravitreal vMCO-I in Patients With Advanced Retinitis Pigmentosa Completed NCT04919473 Phase 1, Phase 2
35 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
36 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
37 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
38 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
39 Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
40 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
41 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 Completed NCT01530659 Phase 2 NT-501
42 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
43 Open-label, Multiple Dose, Dose Escalation Study to Evaluate the Safety/Tolerability and Efficacy of EA-2353 in Subjects With Retinitis Pigmentosa Recruiting NCT05392751 Phase 1, Phase 2 EA-2353
44 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
45 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
46 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
47 A Phase 1/2 Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) and a Phase 2 Randomized, Controlled, Masked, Multi-center Study Comparing Two Doses of AGTC-501 in Male Subjects With X-linked Retinitis Pigmentosa Confirmed by a Pathogenic Variant in the RPGR Gene Recruiting NCT03316560 Phase 1, Phase 2
48 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
49 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
50 Phase 1/2 Study to Assess the Safety and Efficacy of Ocu400 for Retinitis Pigmentosa Associated With Nr2e3 and Rho Mutations and Leber Congenital Amaurosis With Mutation(S) in Cep290 Gene Recruiting NCT05203939 Phase 1, Phase 2 OCU400 Low Dose;OCU400 Mid Dose;OCU400 High Dose

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.
Stem-cell-based therapeutic approaches for Retinitis Pigmentosa:
Bone marrow-derived hematopoietic stem cells for retinopathy
Bone marrow-derived mesenchymal stem cells for retinitis pigmentosa
Bone marrow-derived mesenchymal stem cells for treatment of retinitis pigmentosa
Bone marrow-derived mesenchymal stem cells toward treatment of retinitis pigmentosa
Bone marrow-derived stem cells for retinal diseases
CNTO2476, human umbilical tissue-derived cells for macular degeneration
Renexus (NT-501), CNTF-secreting cells for treatment of retinal diseases
Embryonic/Adult Cultured Cells Related to Retinitis Pigmentosa:
Bone marrow-derived hematopoietic CD34+ progenitors PMIDs: 22247454
Bone marrow-derived hematopoietic stem cells (family) PMIDs: 22247454
Bone marrow-derived mesenchymal stem cell (mouse)
Bone marrow-derived mesenchymal stem cells (family) PMIDs: 21225138
Bone marrow-derived mononuclear cells (family) PMIDs: 21225138 23000646 19347139 23049424
Umbilical tissue-derived cells (CNTO2476) PMIDs: 22450217
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926

Cochrane evidence based reviews: retinitis pigmentosa

Sources

Genetic Tests for Retinitis Pigmentosa

About this section

Genetic tests related to Retinitis Pigmentosa:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 28 AIPL1 ARL6 CFAP418 CLRN1 CNGA1 CRX LRAT PDE6G RBP3 ROM1
2 Autosomal Recessive Retinitis Pigmentosa 28
Sources

Anatomical Context for Retinitis Pigmentosa

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Organs/tissues related to Retinitis Pigmentosa:

MalaCards : Eye, Retina, Bone Marrow, Bone, Testis, Brain, Skin
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
Sources

Publications for Retinitis Pigmentosa

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Articles related to Retinitis Pigmentosa:

(show top 50) (show all 10238)
# Title Authors PMID Year
1
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 53 62 57 5
11139241 2001
2
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 53 62 57 5
10932196 2000
3
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 62 57 5
26261414 2015
4
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. 53 62 5
20300561 2010
5
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. 53 62 5
18641288 2008
6
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 53 62 5
18285826 2008
7
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. 53 62 57
18376416 2008
8
Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa. 53 62 5
17905308 2008
9
RPGR mutation analysis and disease: an update. 53 62 5
17195164 2007
10
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 53 62 5
17296898 2007
11
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. 53 62 5
17093403 2006
12
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 53 62 5
15563508 2005
13
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 53 62 5
15325563 2004
14
MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. 53 62 5
15111602 2004
15
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 53 62 5
15090652 2004
16
Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. 53 62 5
14566651 2003
17
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. 53 62 5
12714658 2003
18
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. 53 62 5
12657579 2003
19
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 53 62 5
11992260 2002
20
Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa. 53 62 5
11754050 2001
21
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 53 62 5
11389483 2001
22
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. 53 62 5
11453974 2001
23
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 53 62 5
10958761 2000
24
Biochemical defects in ABCR protein variants associated with human retinopathies. 53 62 5
11017087 2000
25
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. 53 62 57
10958648 2000
26
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 53 62 5
10775529 2000
27
Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 53 62 5
10484783 1999
28
Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. 53 62 5
10393062 1999
29
Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. 53 62 5
9660588 1998
30
Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 53 62 5
9326942 1997
31
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. 53 62 5
9331261 1997
32
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. 53 62 5
8202715 1994
33
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. 53 62 5
8317502 1993
34
Rhodopsin mutations in autosomal dominant retinitis pigmentosa. 53 62 5
8401533 1993
35
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. 53 62 5
1684223 1991
36
The genetics of rod-cone dystrophy in Arab countries: a systematic review. 62 5
33188265 2021
37
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome. 62 5
33576794 2021
38
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. 62 5
33322828 2020
39
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B. 62 5
32827185 2020
40
De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline. 62 5
32679846 2020
41
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan. 62 5
31872526 2020
42
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. 62 5
31960602 2020
43
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results. 62 5
32000842 2020
44
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). 62 5
31456290 2020
45
Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients. 62 5
31833436 2019
46
Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa. 62 5
31054281 2019
47
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. 62 5
31213501 2019
48
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach. 62 5
30977563 2019
49
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa. 62 5
31370859 2019
50
Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations. 62 5
31264916 2019
Sources

Variations for Retinitis Pigmentosa

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ClinVar genetic disease variations for Retinitis Pigmentosa:

5 (show top 50) (show all 5584)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SNRNP200 NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu) SNV Pathogenic
 143145 rs527236114 GRCh37: 2:96958823-96958823
GRCh38: 2:96293085-96293085
2 USH2A NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly) SNV Pathogenic
 143169 rs527236119 GRCh37: 1:215956121-215956121
GRCh38: 1:215782779-215782779
3 USH2A NM_206933.4(USH2A):c.9751T>C (p.Cys3251Arg) SNV Pathogenic
 143185 rs527236118 GRCh37: 1:215972456-215972456
GRCh38: 1:215799114-215799114
4 CRB1 NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) SNV Pathogenic
 191357 rs863223341 GRCh37: 1:197398685-197398685
GRCh38: 1:197429555-197429555
5 PCARE NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter) SNV Pathogenic
 191360 rs863223344 GRCh37: 2:29296416-29296416
GRCh38: 2:29073550-29073550
6 RP1 NM_006269.2(RP1):c.679T>G (p.Phe227Val) SNV Pathogenic
 191355 rs863223340 GRCh37: 8:55534740-55534740
GRCh38: 8:54622180-54622180
7 CRB1 NM_201253.3(CRB1):c.1459dup (p.Ser487fs) DUP Pathogenic
 191358 rs863223342 GRCh37: 1:197390414-197390415
GRCh38: 1:197421284-197421285
8 PDE6B-AS1, PDE6B NM_000283.4(PDE6B):c.1060-1G>T SNV Pathogenic
 191354 rs863223339 GRCh37: 4:650033-650033
GRCh38: 4:656244-656244
9 PANK2 NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser) SNV Pathogenic
 191359 rs863223343 GRCh37: 20:3893161-3893161
GRCh38: 20:3912514-3912514
10 IFT140 NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) SNV Pathogenic
 191356 rs779007169 GRCh37: 16:1570178-1570178
GRCh38: 16:1520177-1520177
11 ABCA4 NM_000350.3(ABCA4):c.2927del (p.Leu976fs) DEL Pathogenic
 191353 rs863223338 GRCh37: 1:94510292-94510292
GRCh38: 1:94044736-94044736
12 EYS NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) SNV Pathogenic
 143111 rs527236064 GRCh37: 6:64488004-64488004
GRCh38: 6:63778111-63778111
13 TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser) SNV Pathogenic
 7362 rs121909076 GRCh37: 6:35471593-35471593
GRCh38: 6:35503816-35503816
14 CRX NM_000554.6(CRX):c.193G>C (p.Asp65His) SNV Pathogenic
 143085 rs527236062 GRCh37: 19:48339592-48339592
GRCh38: 19:47836335-47836335
15 RHO NM_000539.3(RHO):c.520G>A (p.Gly174Ser) SNV Pathogenic
 143080 rs527236103 GRCh37: 3:129249877-129249877
GRCh38: 3:129531034-129531034
16 PDE6B-AS1, PDE6B NM_000283.4(PDE6B):c.1467+1G>C SNV Pathogenic
 143065 rs527236089 GRCh37: 4:652807-652807
GRCh38: 4:659018-659018
17 PRPH2 NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg) SNV Pathogenic
 98706 rs61755817 GRCh37: 6:42672195-42672195
GRCh38: 6:42704457-42704457
18 RP1 NM_006269.2(RP1):c.2172_2185del (p.Ile725fs) DEL Pathogenic
 437950 rs1554519546 GRCh37: 8:55538610-55538623
GRCh38: 8:54626050-54626063
19 CNGA1, LOC101927157 NM_001379270.1(CNGA1):c.1666C>T (p.Arg556Ter) SNV Pathogenic
 438165 rs567961453 GRCh37: 4:47938833-47938833
GRCh38: 4:47936816-47936816
20 ABCA4 NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) SNV Pathogenic
 438088 rs1553192726 GRCh37: 1:94528871-94528871
GRCh38: 1:94063315-94063315
21 PROM1 NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) SNV Pathogenic
 5609 rs137853005 GRCh37: 4:15995651-15995651
GRCh38: 4:15994028-15994028
22 RPGR NM_001034853.2(RPGR):c.1372_1373del (p.Ser458fs) MICROSAT Pathogenic
 438138 rs1555964133 GRCh37: X:38156578-38156579
GRCh38: X:38297325-38297326
23 RP1 NM_006269.2(RP1):c.2056C>T (p.Gln686Ter) SNV Pathogenic
 437948 rs1554519533 GRCh37: 8:55538498-55538498
GRCh38: 8:54625938-54625938
24 TOPORS NM_005802.5(TOPORS):c.2569del (p.Arg857fs) DEL Pathogenic
 438067 rs1554671407 GRCh37: 9:32541954-32541954
GRCh38: 9:32541956-32541956
25 ABCA4 NM_000350.3(ABCA4):c.5836-3C>A SNV Pathogenic
 417993 rs1064793013 GRCh37: 1:94473856-94473856
GRCh38: 1:94008300-94008300
26 RPGR NM_001034853.2(RPGR):c.1572+3A>T SNV Pathogenic
 427866 rs1555962831 GRCh37: X:38150209-38150209
GRCh38: X:38290956-38290956
27 SCAPER NM_020843.3(SCAPER):c.2973_2976del (p.Ile991Metfs) MICROSAT Pathogenic
 417685 rs1555447569 GRCh37: 15:76763655-76763658
GRCh38: 15:76471314-76471317
28 SCAPER NM_020843.4(SCAPER):c.2023-2A>G SNV Pathogenic
 424861 rs1555558169 GRCh37: 15:77021080-77021080
GRCh38: 15:76728739-76728739
29 RPGR NM_001034853.2(RPGR):c.578_588del (p.Ser193fs) DEL Pathogenic
 586984 rs1569257917 GRCh37: X:38176600-38176610
GRCh38: X:38317347-38317357
30 FAM161A NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) SNV Pathogenic
Pathogenic
 497934 rs777678022 GRCh37: 2:62067136-62067136
GRCh38: 2:61840001-61840001
31 RLBP1 NM_000326.5(RLBP1):c.79del (p.Thr27fs) DEL Pathogenic
 635160 rs1567124404 GRCh37: 15:89761858-89761858
GRCh38: 15:89218627-89218627
32 CNGB1 NM_001297.5(CNGB1):c.2166+1G>A SNV Pathogenic
 636011 rs1596976316 GRCh37: 16:57951171-57951171
GRCh38: 16:57917267-57917267
33 EYS NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs) DEL Pathogenic
 636028 rs1582221424 GRCh37: 6:64776362-64776365
GRCh38: 6:64066469-64066472
34 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg) SNV Pathogenic
 523376 rs142285818 GRCh37: 3:129251570-129251570
GRCh38: 3:129532727-129532727
35 PDE6A NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter) SNV Pathogenic
 636051 rs1581190641 GRCh37: 5:149286886-149286886
GRCh38: 5:149907323-149907323
36 PDE6A NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter) SNV Pathogenic
 636052 rs1581180469 GRCh37: 5:149278046-149278046
GRCh38: 5:149898483-149898483
37 MERTK, MKS1 NM_006343.2:c.(?_-1)_(1144+1_1145-1)del DEL Pathogenic
 636043 GRCh37:
GRCh38:
38 PRPF31 NM_015629.4(PRPF31):c.997del (p.Glu333fs) DEL Pathogenic
 636072 rs1600355502 GRCh37: 19:54631498-54631498
GRCh38: 19:54128123-54128123
39 RP1 NM_006269.2(RP1):c.2585C>G (p.Ser862Ter) SNV Pathogenic
 636091 rs1585563965 GRCh37: 8:55539027-55539027
GRCh38: 8:54626467-54626467
40 RP1 NM_006269.2(RP1):c.2690_2695del (p.Ser897_Lys899delinsTer) DEL Pathogenic
 636092 rs1585564175 GRCh37: 8:55539132-55539137
GRCh38: 8:54626572-54626577
41 RP2 NM_006915.3(RP2):c.16_18del (p.Ser6del) DEL Pathogenic
 10544 rs137852284 GRCh37: X:46696550-46696552
GRCh38: X:46837115-46837117
42 RPGR NM_001034853.2(RPGR):c.248-2A>G SNV Pathogenic
 98765 rs62638633 GRCh37: X:38180344-38180344
GRCh38: X:38321091-38321091
43 RPGR NM_001034853.2(RPGR):c.28+1G>C SNV Pathogenic
 636110 rs62638627 GRCh37: X:38186592-38186592
GRCh38: X:38327339-38327339
44 RPGR NM_000328.2(RPGR):c.*644del DEL Pathogenic
 636111 rs1601890980 GRCh37: X:38128235-38128235
GRCh38: X:38268982-38268982
45 USH2A-AS2, USH2A NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter) SNV Pathogenic
 636123 rs1571941589 GRCh37: 1:216251530-216251530
GRCh38: 1:216078188-216078188
46 USH2A NM_206933.2:c.(11711+1_11712-1)_(*1_?)del DEL Pathogenic
 636141 GRCh37:
GRCh38:
47 CDH23 NM_022124.6(CDH23):c.5710_5712+3del DEL Pathogenic
 636159 rs1589420011 GRCh37: 10:73544855-73544860
GRCh38: 10:71785098-71785103
48 BBS2 NM_031885.5(BBS2):c.1290dup (p.His431fs) DUP Pathogenic
 636152 rs777420525 GRCh37: 16:56534872-56534873
GRCh38: 16:56500960-56500961
49 PDE6A NM_000440.3(PDE6A):c.2064del (p.Lys689fs) DEL Pathogenic
 802164 rs1581164958 GRCh37: 5:149263063-149263063
GRCh38: 5:149883500-149883500
50 PDE6A NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) SNV Pathogenic
 13110 rs121918576 GRCh37: 5:149265917-149265917
GRCh38: 5:149886354-149886354

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

73
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg41Gln VAR_007946 rs61748436

Copy number variations for Retinitis Pigmentosa from CNVD:

6
# 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
Sources

Expression for Retinitis Pigmentosa

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Search GEO for disease gene expression data for Retinitis Pigmentosa.
Sources

Pathways for Retinitis Pigmentosa

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Pathways directly related to Retinitis Pigmentosa:

# Pathway Source
1 Defective DHDDS causes RP59 Reactome 66

Pathways related to Retinitis Pigmentosa according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Olfactory Signaling Pathway 66
Show member pathways
 13.12 RHO RBP3 PDE6G PDE6B PDE6A LRAT
2
Visual phototransduction 66
Show member pathways
 12.1 RHO RBP3 PDE6G PDE6B PDE6A LRAT
3
Bardet-Biedl syndrome 74
Show member pathways
 11.84 CRX CNGA1 CFAP418 ARL6
4
Ciliopathies 74
11.67 RP2 RP1 CRX CNGA1
5
Cargo trafficking to the periciliary membrane 66
Show member pathways
 11.65 RP2 RHO ARL6
6
Joubert syndrome 74
11.43 PDE6A PDE6B PDE6G RP2
7
Phosphodiesterases in neuronal function 74
11.3 PDE6G PDE6B PDE6A
8
Diseases of the neuronal system 66
Show member pathways
 11.3 RHO RBP3 LRAT ABCA4
9
Visual Cycle in Retinal Rods 64
11.14 RHO RBP3 PDE6G PDE6B PDE6A LRAT
Sources

GO Terms for Retinitis Pigmentosa

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 10.1 USH2A RP1 RHO PRPH2 CRB1 CFAP418
2 cell projection GO:0042995 10 USH2A RPGR RP2 RP1 RHO PRPH2
3 photoreceptor disc membrane GO:0097381 9.85 ABCA4 PDE6A PDE6B PDE6G RHO
4 periciliary membrane compartment GO:1990075 9.67 USH2A RP2
5 photoreceptor outer segment membrane GO:0042622 9.65 RHO PDE6G PDE6B PDE6A CNGA1
6 photoreceptor outer segment GO:0001750 9.5 RPGR RP1 RHO PRPH2 PDE6B PDE6A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 10.17 ABCA4 ARL6 CLRN1 CNGA1 CRB1 CRX
2 retina development in camera-type eye GO:0060041 10 RP1 RHO PRPH2 PDE6B PDE6A CRB1
3 retinoid metabolic process GO:0001523 9.95 RBP3 LRAT ABCA4
4 photoreceptor cell maintenance GO:0045494 9.93 ABCA4 CLRN1 CRB1 RHO RP1 USH2A
5 phototransduction, visible light GO:0007603 9.92 RP1 RHO PDE6B ABCA4
6 cellular response to light stimulus GO:0071482 9.91 RP1 RHO CRB1
7 photoreceptor cell outer segment organization GO:0035845 9.88 RP1 PRPH2 CRB1
8 sensory perception of light stimulus GO:0050953 9.77 CLRN1 RHO USH2A
9 response to stimulus GO:0050896 9.62 ABCA4 ARL6 CLRN1 CNGA1 CRX LRAT
10 retina morphogenesis in camera-type eye GO:0060042 9.49 RP1 CRB1
11 detection of light stimulus GO:0009583 9.46 RHO PDE6B

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

# Name GO ID Score Top Affiliating Genes
1 retinol binding GO:0019841 9.62 RBP3 LRAT
2 retinoid binding GO:0005501 9.56 RBP3 ABCA4
3 11-cis retinal binding GO:0005502 9.46 RHO ABCA4
4 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.35 PDE6G PDE6B PDE6A
5 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.1 PDE6G PDE6B PDE6A
Sources

Sources for Retinitis Pigmentosa

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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