RP
MCID: RTN008
MIFTS: 77

Retinitis Pigmentosa (RP)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa

MalaCards integrated aliases for Retinitis Pigmentosa:

Name: Retinitis Pigmentosa 56 12 74 52 25 58 73 36 29 54 6 43 15 37 39 39 71
Rp 56 52 25 73
Rod-Cone Dystrophy 25 73 6
Retinitis Pigmentosa 1 43 71
Pigmentary Retinopathy 25 6
Retinitis Pigmentosa, Autosomal Recessive 39
Retinitis Pigmentosa Autosomal Recessive 73
Autosomal Recessive Retinitis Pigmentosa 29
Pericentral Pigmentary Retinopathy 12
Non-Syndromic Retinitis Pigmentosa 73
Tapetoretinal Degeneration 25
Arrp 73
Rcd 73

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:

56
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 56 268000
OMIM Phenotypic Series 56 PS268000
KEGG 36 H00527
NCIt 49 C85045
SNOMED-CT 67 28835009
ICD10 32 H35.52
MESH via Orphanet 44 D012174
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0035334
Orphanet 58 ORPHA791
MedGen 41 C0035334
UMLS 71 C0035334 C0220701

Summaries for Retinitis Pigmentosa

Genetics Home Reference : 25 Retinitis pigmentosa is a group of related eye disorders that cause progressive vision loss. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with retinitis pigmentosa, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. 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 usher syndrome and retinitis. 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 Sodium citrate and Ranibizumab 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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 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.

Wikipedia : 74 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 Nonsyndromic Retinitis Pigmentosa

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

(show top 50) (show all 1136)
# Related Disease Score Top Affiliating Genes
1 usher syndrome 37.7 USH2A TULP1 RPGR RPE65 RHO PRPH2
2 retinitis 36.8 USH2A SNRNP200 RPGR RPE65 RP2 RP1
3 cone-rod dystrophy 2 36.7 USH2A TULP1 RPGR RPE65 RHO PRPH2
4 retinitis pigmentosa 1 36.6 RP1 RHO PRPH2 PDE6A CRX CNGA1
5 fundus dystrophy 36.4 USH2A TULP1 SNRNP200 RPGR RPE65 RP2
6 retinitis pigmentosa 7 36.2 TULP1 RPGR PRPH2 PDE6A
7 retinal disease 36.2 USH2A TULP1 RPGR RPE65 RP2 RHO
8 retinitis pigmentosa 25 36.1 RPGR PRPH2 PDE6A EYS
9 newfoundland rod-cone dystrophy 36.1 RHO PRPH2
10 bardet-biedl syndrome 36.1 USH2A TULP1 RPGR RPE65 RHO PRPH2
11 usher syndrome, type i 36.1 USH2A RPGR RPE65 RHO PDE6B CRX
12 retinitis pigmentosa 3 36.1 RPGR RP2 ABCA4
13 leber congenital amaurosis 4 36.0 TULP1 RPE65 PRPH2 PDE6A MERTK CRX
14 leber congenital amaurosis 36.0 USH2A TULP1 RPGR RPE65 RP2 RP1
15 retinitis pigmentosa 50 35.9 RPGR PRPH2 EYS
16 retinitis pigmentosa 14 35.9 TULP1 RPGR CERKL
17 retinitis pigmentosa 13 35.9 SNRNP200 RPGR PRPF31
18 retinitis pigmentosa 40 35.9 RPGR PRPF31 PDE6B
19 usher syndrome type 2 35.9 USH2A TULP1 RPGR RPE65 RHO PDE6B
20 retinitis pigmentosa 34 35.8 RPGR PRPF31 CRX
21 retinitis pigmentosa 4 35.8 RPGR RHO
22 retinitis pigmentosa 29 35.8 PDE6A CNGA1 CERKL
23 usher syndrome, type iiia 35.7 USH2A TULP1 RPE65 PRPF31 PDE6B PDE6A
24 retinal degeneration 35.7 USH2A TULP1 RPGR RPE65 RP2 RP1
25 retinitis pigmentosa 38 35.6 TULP1 MERTK
26 retinitis pigmentosa 39 35.6 USH2A RPGR
27 retinitis pigmentosa 33 35.6 SNRNP200 PRPF31
28 retinitis pigmentosa 19 35.5 RPGR ABCA4
29 cone-rod dystrophy 6 35.5 RPGR RPE65 PRPH2 PDE6B PDE6A CRB1
30 retinitis pigmentosa 20 35.4 RPGR RPE65
31 nonsyndromic retinitis pigmentosa 35.3 USH2A CLRN1 ABCA4
32 retinitis pigmentosa 26 35.2 RPGR CERKL
33 leber congenital amaurosis 3 35.2 TULP1 RPE65 CRX CRB1
34 inherited retinal disorder 35.1 USH2A RPGR RPE65 RP2 RP1 PRPH2
35 senior-loken syndrome 1 35.0 USH2A TULP1 RPGR RPE65 CRX CRB1
36 stargardt disease 34.9 USH2A TULP1 SNRNP200 RPGR RPE65 RHO
37 eye disease 34.6 USH2A TULP1 RPGR RPE65 RHO PRPH2
38 congenital stationary night blindness 34.5 USH2A TULP1 RPGR RPE65 RHO PRPH2
39 usher syndrome, type iia 34.5 USH2A EYS CRB1
40 late-onset retinal degeneration 34.3 RPGR RHO EYS CRB1
41 night blindness 34.3 USH2A RPGR RPE65 RHO PRPH2 PDE6B
42 macular degeneration, age-related, 1 34.2 USH2A RPGR RPE65 RHO PRPH2 PDE6B
43 yemenite deaf-blind hypopigmentation syndrome 34.1 USH2A RPGR RPE65 RHO CRB1 ABCA4
44 usher syndrome, type iic 34.1 USH2A PDE6B PDE6A CLRN1
45 fundus albipunctatus 34.0 USH2A TULP1 RPGR RPE65 RHO PRPH2
46 achromatopsia 34.0 USH2A TULP1 RPGR RPE65 RHO PRPH2
47 cone dystrophy 33.9 USH2A RPGR RPE65 RHO PRPH2 PDE6B
48 usher syndrome, type iid 33.8 USH2A CLRN1
49 usher syndrome, type ij 33.5 USH2A CLRN1
50 oguchi disease 33.5 RHO PDE6B

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 32)
# 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 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
5 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
6 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
7 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
8 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
9 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
10 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
11 atypical scarring of skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000987
12 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
13 conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000405
14 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
15 progressive night blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007675
16 abnormal retinal vascular morphology 31 hallmark (90%) HP:0008046
17 abnormal testis morphology 31 hallmark (90%) HP:0000035
18 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
19 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
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 rod-cone dystrophy 31 HP:0000510
27 nyctalopia 31 HP:0000662
28 visual impairment 58 Very frequent (99-80%)
29 abnormality of the retinal vasculature 58 Very frequent (99-80%)
30 abnormality of the testis 58 Very frequent (99-80%)
31 constriction of peripheral visual field 31 HP:0001133
32 abnormality of fundus pigmentation 31 HP:0031605

Symptoms via clinical synopsis from OMIM:

56
Eyes:
night blindness
retinitis pigmentosa
constricted visual fields
fundal pigment lumps

Clinical features from OMIM:

268000

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 MERTK
2 Decreased viability GR00106-A-0 10.1 PRPF31 SNRNP200
3 Decreased viability GR00221-A-1 10.1 CERKL MERTK
4 Decreased viability GR00221-A-3 10.1 CERKL
5 Decreased viability GR00221-A-4 10.1 MERTK
6 Decreased viability GR00381-A-1 10.1 CLRN1
7 Decreased viability GR00402-S-2 10.1 ABCA4 CERKL CLRN1 CNGA1 CRB1 CRX
8 no effect GR00402-S-1 9.62 ABCA4 CERKL CLRN1 CNGA1 CRB1 CRX

MGI Mouse Phenotypes related to Retinitis Pigmentosa:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.03 ABCA4 CRB1 CRX MERTK PDE6A PDE6B
2 nervous system MP:0003631 10.03 ABCA4 CLRN1 CRB1 CRX MERTK PDE6A
3 pigmentation MP:0001186 9.7 ABCA4 CRB1 CRX MERTK PDE6B PRPF31
4 vision/eye MP:0005391 9.58 ABCA4 CERKL CLRN1 CRB1 CRX MERTK

Drugs & Therapeutics for Retinitis Pigmentosa

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

(show top 50) (show all 145)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Ranibizumab Approved Phase 4 347396-82-1 459903
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
4 Sildenafil Citrate Phase 4 171599-83-0
5 Citrate Phase 4
6 Angiogenesis Inhibitors Phase 4
7 Immunoglobulins Phase 4
8 Antibodies Phase 4
9 Autoantibodies Phase 4
10 Vardenafil Dihydrochloride Phase 4
11 Vasodilator Agents Phase 4
12 Phosphodiesterase Inhibitors Phase 4
13 Phosphodiesterase 5 Inhibitors Phase 4
14
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
15
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
17
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 6433159
18
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
19 Tocotrienol Investigational Phase 3 6829-55-6
20 retinol Phase 3
21 Retinol palmitate Phase 3
22 Tocopherols Phase 3
23 Tocotrienols Phase 3
24 Calciferol Phase 3
25 Antihypertensive Agents Phase 3
26 Isopropyl unoprostone Phase 3
27
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
28
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
29
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
30
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
31
Iodine Approved, Investigational Phase 2 7553-56-2 807
32
Povidone Approved Phase 2 9003-39-8
33
Povidone-iodine Approved Phase 2 25655-41-8
34
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
35
Brinzolamide Approved Phase 2 138890-62-7 68844
36
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
37
Levodopa Approved Phase 2 59-92-7 6047
38
Carbidopa Approved Phase 2 28860-95-9 34359
39
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
40
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
41
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652
42
Beta carotene Approved, Nutraceutical Phase 1, Phase 2 7235-40-7
43 Antiemetics Phase 2
44 HIV Protease Inhibitors Phase 2
45
protease inhibitors Phase 2
46 BB 1101 Phase 2
47 Hormone Antagonists Phase 2
48 Antineoplastic Agents, Hormonal Phase 2
49 glucocorticoids Phase 2
50 Hormones Phase 2

Interventional clinical trials:

(show top 50) (show all 178)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, 3-arm Parallel Trial to Evaluate the Safety and Clinical Effectiveness of 2 Lower Dose Combined PDE5i's vs. Single Maximal Dose PDE5i Treatment Unknown status NCT00498680 Phase 4 Sildenafil, Vardenafil;Sildenafil;Vardenafil;Sildenafil & Vardenafil
2 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
3 Correlation of Functional and Structural Outcomes With Serum Antibody Profiles in Patients With Neovascular Age-related Macular Degeneration Treated With Ranibizumab and Healthy Subjects: A Prospective, Controlled Monocenter Trial Completed NCT02843490 Phase 4 Ranibizumab
4 An Integrated Approach With Vardenafil Orodispersible and Cognitive-behavioral Sex Therapy for the Treatment of Erectile Dysfunction (STEDOV) Completed NCT02450188 Phase 4 Vardenafil
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 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) Recruiting NCT03116113 Phase 2, Phase 3
9 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
10 A Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301] Active, not recruiting NCT00999609 Phase 3
11 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
12 Argus® II Retinal Stimulation System Feasibility Protocol Unknown status NCT00407602 Phase 2
13 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
14 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
15 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
16 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
17 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
18 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
19 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
20 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
21 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
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 Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
26 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
27 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
28 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
29 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
30 Efficacy and Safety of Intravitreal Ranibizumab (Lucentis®) Injection in the Treatment of Non-leaking Macular Cysts in Patients With Retinal Dystrophy. Completed NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
31 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
32 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
33 Phase I/IIa, Open-Label, Dose-Escalation Study of Safety and Tolerability of Intravitreal RST-001 in Patients With Advanced Retinitis Pigmentosa (RP) Recruiting NCT02556736 Phase 1, Phase 2 RST-001
34 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) Recruiting NCT03252847 Phase 1, Phase 2
35 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
36 The Efficacy and Safety of Oral Minocycline in the Treatment of Retinitis Pigmentosa: An Open-label Clinical Trial Recruiting NCT04068207 Phase 2 Minocycline
37 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
38 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
39 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
40 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
41 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
42 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
43 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
44 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 Active, not recruiting NCT01530659 Phase 2 NT-501
45 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
46 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) Active, not recruiting NCT03073733 Phase 2
47 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
48 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein) Not yet recruiting NCT04120883 Phase 1, Phase 2 Hydroxychloroquine lower dose;Hydroxychloroquine higher dose
49 A Phase I/IIa Dose Escalation Safety Study of Subretinally Injected SAR421869, Administered to Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Terminated NCT01505062 Phase 1, Phase 2
50 Pilot Phase I/II Study of the Evaluation of Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b

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, Testes, Brain, Skin, Kidney
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Retinitis Pigmentosa:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Outer Nuclear Layer Cone Precursor Cells Affected by disease, potential therapeutic candidate
2 Eye Outer Nuclear Layer Mature L Cone Cells Affected by disease, potential therapeutic candidate
3 Eye Outer Nuclear Layer Mature M Cone Cells Affected by disease, potential therapeutic candidate
4 Eye Outer Nuclear Layer Mature M-S Cone Cells Affected by disease, potential therapeutic candidate
5 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Affected by disease, potential therapeutic candidate
6 Eye Outer Nuclear Layer Mature Rod Cells Affected by disease, potential therapeutic candidate
7 Eye Outer Nuclear Layer Mature S Cone Cells Affected by disease, potential therapeutic candidate
8 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Affected by disease, potential therapeutic candidate
9 Eye Outer Nuclear Layer Rod Precursor Cells Affected by disease, potential therapeutic candidate

Publications for Retinitis Pigmentosa

Articles related to Retinitis Pigmentosa:

(show top 50) (show all 7941)
# Title Authors PMID Year
1
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 54 61 56 6
10932196 2000
2
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. 61 56 6
17564971 2007
3
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. 61 56 6
15557452 2004
4
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 61 56 6
9326941 1997
5
Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. 61 56 6
1783394 1991
6
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. 54 61 6
20300561 2010
7
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. 54 61 6
19074801 2009
8
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa. 54 61 6
18412284 2008
9
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. 54 61 56
18376416 2008
10
Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. 54 61 6
17932117 2008
11
Identification and characterization of a novel RPGR isoform in human retina. 54 61 6
17405150 2007
12
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. 54 61 6
17652713 2007
13
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. 54 61 6
17620573 2007
14
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity. 54 61 6
17335001 2007
15
A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. 54 61 6
17480003 2007
16
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. 54 61 6
17325180 2007
17
The 208delG mutation in FSCN2 does not associate with retinal degeneration in Chinese individuals. 54 61 6
17251446 2007
18
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. 54 61 6
17296898 2007
19
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. 54 61 6
16708387 2006
20
Genome-wide identification of pseudogenes capable of disease-causing gene conversion. 54 61 6
16671097 2006
21
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. 54 61 6
16543197 2006
22
A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. 54 61 6
16387007 2006
23
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. 54 61 6
16280978 2005
24
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. 54 61 6
15851576 2005
25
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
26
Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa. 54 61 6
15509574 2005
27
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 54 61 6
15563508 2005
28
PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. 54 61 6
15474994 2004
29
Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H. 54 61 6
14769795 2004
30
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 54 61 6
15090652 2004
31
Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? 54 61 6
15032968 2004
32
Autosomal dominant macular degeneration associated with 208delG mutation in the FSCN2 gene. 54 61 6
14609921 2003
33
Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. 54 61 6
12796249 2003
34
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. 54 61 6
11875049 2002
35
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. 54 61 6
11875050 2002
36
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. 54 61 6
11773002 2002
37
Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. 54 61 6
11527955 2001
38
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). 54 61 6
11545739 2001
39
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. 54 61 6
11462235 2001
40
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 54 61 6
11389483 2001
41
Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. 54 61 56
11139241 2001
42
Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. 54 61 6
10970770 2000
43
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. 54 61 56
10958648 2000
44
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. 54 61 6
10937588 2000
45
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. 54 61 6
10942419 2000
46
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 54 61 6
10775529 2000
47
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 54 61 6
10581022 1999
48
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. 54 61 6
10482958 1999
49
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. 54 61 6
10401007 1999
50
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. 54 61 6
10401003 1999

Variations for Retinitis Pigmentosa

ClinVar genetic disease variations for Retinitis Pigmentosa:

6 (show top 50) (show all 741) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 USH2A NM_007123.5(USH2A):c.4510dup (p.Arg1504fs)duplication Pathogenic 166504 rs727503731 1:216348710-216348711 1:216175368-216175369
2 USH2A NM_206933.3(USH2A):c.11440G>T (p.Gly3814Ter)SNV Pathogenic 180084 rs727505337 1:215916627-215916627 1:215743285-215743285
3 CRB1 NM_201253.3(CRB1):c.1459dup (p.Ser487fs)duplication Pathogenic 191358 rs863223342 1:197390414-197390415 1:197421284-197421285
4 CRB1 NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)SNV Pathogenic 191357 rs863223341 1:197398685-197398685 1:197429555-197429555
5 ABCA4 NM_000350.3(ABCA4):c.2927del (p.Leu976fs)deletion Pathogenic 191353 rs863223338 1:94510292-94510292 1:94044736-94044736
6 PCARE NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)SNV Pathogenic 191360 rs863223344 2:29296416-29296416 2:29073550-29073550
7 PDE6B NM_000283.3(PDE6B):c.1060-1G>TSNV Pathogenic 191354 rs863223339 4:650033-650033 4:656244-656244
8 RP1 NM_006269.2(RP1):c.679T>G (p.Phe227Val)SNV Pathogenic 191355 rs863223340 8:55534740-55534740 8:54622180-54622180
9 IFT140 NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu)SNV Pathogenic 191356 rs779007169 16:1570178-1570178 16:1520177-1520177
10 PANK2 NM_153638.3(PANK2):c.1292T>C (p.Phe431Ser)SNV Pathogenic 191359 rs863223343 20:3893161-3893161 20:3912514-3912514
11 PDE6B NM_000283.3(PDE6B):c.2193+1G>ASNV Pathogenic 167440 rs727504075 4:658734-658734 4:664945-664945
12 RPGR NM_000328.3(RPGR):c.1905+521_1905+522delshort repeat Pathogenic 183262 rs730882261 X:38145825-38145826 X:38286572-38286573
13 PDE6A NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)deletion Pathogenic 195462 rs754012367 5:149245756-149245759 5:149866193-149866196
14 EYS NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)deletion Pathogenic 195936 rs761238771 6:65301404-65301410 6:64591511-64591517
15 RHO NM_000539.3(RHO):c.541G>A (p.Glu181Lys)SNV Pathogenic 196282 rs775557680 3:129251104-129251104 3:129532261-129532261
16 EYS NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)SNV Pathogenic 197186 rs794727631 6:66204814-66204814 6:65494921-65494921
17 USH2A NM_206933.3(USH2A):c.11873_11874CA[1] (p.Gln3959fs)short repeat Pathogenic 198318 rs779791079 1:215901562-215901563 1:215728220-215728221
18 CNGA1 NM_001142564.1(CNGA1):c.859C>T (p.Arg287Ter)SNV Pathogenic 242520 rs759781200 4:47942792-47942792 4:47940775-47940775
19 PDE6B NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter)SNV Pathogenic 228390 rs876657718 4:619706-619706 4:625917-625917
20 FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695
21 BBS10 NM_024685.4(BBS10):c.271dup (p.Cys91fs)duplication Pathogenic 1328 rs549625604 12:76741493-76741494 12:76347713-76347714
22 CEP290 NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
23 CEP290 NM_025114.3(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
24 RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs)deletion Pathogenic 2047 rs386834261 14:68196054-68196058 14:67729337-67729341
25 RDH12 NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)SNV Pathogenic 2051 rs104894474 14:68192803-68192803 14:67726086-67726086
26 RDH12 NM_152443.3(RDH12):c.451C>G (p.His151Asp)SNV Pathogenic 2054 rs104894475 14:68193700-68193700 14:67726983-67726983
27 RDH12 NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)SNV Pathogenic 2055 rs28940315 14:68191923-68191923 14:67725206-67725206
28 RDH12 NM_152443.3(RDH12):c.377C>T (p.Ala126Val)SNV Pathogenic 2061 rs202126574 14:68192801-68192801 14:67726084-67726084
29 USH2A NM_206933.3(USH2A):c.11864G>A (p.Trp3955Ter)SNV Pathogenic 2357 rs111033364 1:215901574-215901574 1:215728232-215728232
30 USH2A NM_206933.3(USH2A):c.949C>A (p.Arg317=)SNV Pathogenic 2358 rs111033272 1:216498841-216498841 1:216325499-216325499
31 USH2A NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly)SNV Pathogenic 2362 rs80338904 1:215844427-215844427 1:215671085-215671085
32 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617
33 CLRN1 NM_001195794.1(CLRN1):c.189C>A (p.Tyr63Ter)SNV Pathogenic 4397 rs111033267 3:150690307-150690307 3:150972520-150972520
34 USH1C NM_005709.3(USH1C):c.238dupC (p.Arg80Profs)duplication Pathogenic 5141 rs397515359 11:17552955-17552956 11:17531408-17531409
35 PROM1 NM_001145847.2(PROM1):c.1699C>T (p.Gln567Ter)SNV Pathogenic 5609 rs137853005 4:15995651-15995651 4:15994028-15994028
36 CRB1 NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)SNV Pathogenic 5732 rs62635654 1:197396745-197396745 1:197427615-197427615
37 CRB1 NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)SNV Pathogenic 5733 rs28939720 1:197396689-197396689 1:197427559-197427559
38 CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)SNV Pathogenic 5736 rs137853137 1:197396856-197396856 1:197427726-197427726
39 RP1 NM_006269.2(RP1):c.2280_2284TAAAT[1] (p.Leu762fs)short repeat Pathogenic 5966 rs869320726 8:55538722-55538726 8:54626162-54626166
40 TULP1 NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)SNV Pathogenic 7362 rs121909076 6:35471593-35471593 6:35503816-35503816
41 GUCA1A NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys)SNV Pathogenic 9150 rs104893967 6:42146112-42146112 6:42178374-42178374
42 RP2 NM_006915.3(RP2):c.16_18del (p.Ser6del)deletion Pathogenic 10544 rs137852284 X:46696550-46696552 X:46837115-46837117
43 RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter)SNV Pathogenic 10551 rs104894927 X:46713166-46713166 X:46853731-46853731
44 MYO7A NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)SNV Pathogenic 11859 rs35689081 11:76853829-76853829 11:77142783-77142783
45 BBS1 NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)SNV Pathogenic 12143 rs113624356 11:66293652-66293652 11:66526181-66526181
46 RHO NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)SNV Pathogenic 13014 rs29001566 3:129252554-129252554 3:129533711-129533711
47 RHO NM_000539.3(RHO):c.50C>T (p.Thr17Met)SNV Pathogenic 13018 rs104893769 3:129247626-129247626 3:129528783-129528783
48 RHO NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)SNV Pathogenic 13025 rs104893776 3:129251096-129251096 3:129532253-129532253
49 RHO NM_000539.3(RHO):c.403C>T (p.Arg135Trp)SNV Pathogenic 13028 rs104893775 3:129249760-129249760 3:129530917-129530917
50 RHO NM_000539.3(RHO):c.44A>G (p.Asn15Ser)SNV Pathogenic 13042 rs104893786 3:129247620-129247620 3:129528777-129528777

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:

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 9.8 USH2A TULP1 RPGR RP2 RP1 RHO
2 cilium GO:0005929 9.72 TULP1 RPGR RP2 RP1 EYS
3 ciliary basal body GO:0036064 9.61 USH2A RPGR RP2
4 photoreceptor disc membrane GO:0097381 9.46 RHO PDE6B PDE6A ABCA4
5 photoreceptor inner segment GO:0001917 9.43 USH2A TULP1 RP1 RHO CRB1 CERKL
6 photoreceptor outer segment membrane GO:0042622 9.4 RHO CNGA1
7 periciliary membrane compartment GO:1990075 9.37 USH2A RP2
8 photoreceptor outer segment GO:0001750 9.32 TULP1 RPGR RP1 RHO PRPH2 MERTK

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 9.77 USH2A TULP1 RPGR RPE65 RP1 RHO
2 retina development in camera-type eye GO:0060041 9.76 TULP1 RPE65 RP1 RHO PRPH2 PDE6B
3 photoreceptor cell maintenance GO:0045494 9.73 USH2A TULP1 RP1 RHO CLRN1 ABCA4
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.71 RHO PDE6B PDE6A CNGA1
5 retinoid metabolic process GO:0001523 9.67 RPE65 RHO ABCA4
6 rhodopsin mediated signaling pathway GO:0016056 9.67 RHO PDE6B PDE6A CNGA1
7 detection of light stimulus involved in visual perception GO:0050908 9.63 TULP1 RPE65 EYS
8 phototransduction, visible light GO:0007603 9.62 RP1 RHO PDE6B ABCA4
9 sensory perception of light stimulus GO:0050953 9.61 USH2A RHO CLRN1
10 eye photoreceptor cell development GO:0042462 9.54 TULP1 CRB1
11 cellular response to light stimulus GO:0071482 9.52 RP1 RHO
12 retina morphogenesis in camera-type eye GO:0060042 9.51 RPE65 RP1
13 visual perception GO:0007601 9.5 USH2A TULP1 RPGR RPE65 RP2 RP1
14 detection of light stimulus GO:0009583 9.48 RHO PDE6B

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

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

Sources for Retinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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