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Browse result for Retinitis pigmentosa
※ introduction Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood.
Retinitis pigmentosa is generally inherited from one or both parents. It is caused by genetic variants in nearly 100 genes. The underlying mechanism involves the progressive loss of rod photoreceptor cells that line the retina of the eyeball. The rod cells secrete a neuroprotective substance (Rod-derived cone viability factor, RdCVF) that protects the cone cells from apoptosis (cell death). However, when the rod cells die, this substance is no longer provided. This is generally followed by the loss of cone photoreceptor cells. Diagnosis is by eye examination of the retina finding dark pigment deposits caused by the rupture of the underlying retinal pigmented epithelial cells, given that these cells contain a pigment known as melanin. Other supportive testing may include the electroretinogram (ERG), visual field testing (VFT), ocular coherence tomography (OCT) and DNA testing to determine the gene responsible for a person's particular type of RP (now called Inherited Retinal Dystrophy (IRD)).
There is currently no cure for retinitis pigmentosa. Efforts to manage the problem may include the use of low vision aids, portable lighting, or orientation and mobility training. Vitamin A palmitate supplements may be useful to slow worsening. A visual prosthesis may be an option in certain people with severe disease.
Currently there is only one FDA-approved gene therapy that is commercially available to RP patients with Leber congenital amaurosis type 2. It replaces the miscoded RPE65 protein that is produced within the retinal pigmented epithelium. It has been found to effectively work in about 50% of the patients who receive the therapy. The earlier the child receives the RPE65 therapy the better the chances for a positive outcome. There are many other therapies being researched at this time with the goal of being approved in the next few years.
It is estimated to affect 1 in 4,000 people.
Reference
Wiki: Retinitis pigmentosa
Reference
Wiki: Retinitis pigmentosa
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD02083 | A6NGG8 | 38893 | PCARE | Photoreceptor cilium actin regulator | Homo sapiens |
| PTMD01423 | O43395 | 9129 | PRPF3 | U4/U6 small nuclear ribonucleoprotein Prp3 | Homo sapiens |
| PTMD01107 | P54845 | 4901 | NRL | Neural retina-specific leucine zipper protein | Homo sapiens |
| PTMD01123 | Q12866 | 10461 | MERTK | Tyrosine-protein kinase Mer | Homo sapiens |
| PTMD02279 | O00294 | 7287 | TULP1 | Tubby-related protein 1 | Homo sapiens |
| PTMD02790 | O43837 | 3420 | IDH3B | Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial -specific ICDH subunit beta) | Homo sapiens |
| PTMD03155 | O75643 | 23020 | SNRNP200 | U5 small nuclear ribonucleoprotein 200 kDa helicase | Homo sapiens |
| PTMD03168 | O75695 | 6102 | RP2 | Protein XRP2 | Homo sapiens |
| PTMD03312 | O94906 | 24148 | PRPF6 | Pre-mRNA-processing factor 6 | Homo sapiens |
| PTMD03858 | P08100 | 6010 | RHO | Rhodopsin | Homo sapiens |
| PTMD04046 | P10745 | 5949 | RBP3 | Retinol-binding protein 3 | Homo sapiens |
| PTMD04281 | P16499 | 5145 | PDE6A | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha | Homo sapiens |
| PTMD04363 | P18545 | 5148 | PDE6G | Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma | Homo sapiens |
| PTMD04452 | P20839 | 3614 | IMPDH1 | Inosine-5'-monophosphate dehydrogenase 1 | Homo sapiens |
| PTMD04508 | P22223 | 1001 | CDH3 | Cadherin-3 | Homo sapiens |
| PTMD04538 | P22748 | 762 | CA4 | Carbonic anhydrase 4 | Homo sapiens |
| PTMD04756 | P29973 | 1259 | CNGA1 | Cyclic nucleotide-gated channel alpha-1 | Homo sapiens |
| PTMD05685 | P56715 | 6101 | RP1 | Oxygen-regulated protein 1 | Homo sapiens |
| PTMD07090 | Q16518 | 6121 | RPE65 | Retinoid isomerohydrolase | Homo sapiens |
| PTMD07311 | Q3B820 | 84140 | FAM161A | Protein FAM161A | Homo sapiens |
| PTMD07386 | Q49MI3 | 37529 | CERKL | Ceramide kinase-like protein | Homo sapiens |
| PTMD08240 | Q6P2Q9 | 10594 | PRPF8 | Pre-mRNA-processing-splicing factor 8 | Homo sapiens |
| PTMD08947 | Q86SQ9 | 79947 | DHDDS | Dehydrodolichyl diphosphate synthase complex subunit DHDDS | Homo sapiens |
| PTMD09820 | Q8N8E2 | 13055 | ZNF513 | Zinc finger protein 513 | Homo sapiens |
| PTMD10015 | Q8NDN9 | 55213 | RCBTB1 | RCC1 and BTB domain-containing protein 1 | Homo sapiens |
| PTMD10101 | Q8NFJ9 | 582 | BBS1 | Bardet-Biedl syndrome 1 protein | Homo sapiens |
| PTMD10627 | Q8WWY3 | 26121 | PRPF31 | U4/U6 small nuclear ribonucleoprotein Prp31 | Homo sapiens |
| PTMD12433 | Q9BZV3 | 50939 | IMPG2 | Interphotoreceptor matrix proteoglycan 2 | Homo sapiens |
| PTMD12749 | Q9H3S1 | 64218 | SEMA4A | Semaphorin-4A | Homo sapiens |
| PTMD13422 | Q9NS56 | 10210 | TOPORS | E3 ubiquitin-protein ligase Topors | Homo sapiens |
| PTMD14987 | Q9Y5X4 | 10002 | NR2E3 | Photoreceptor-specific nuclear receptor | Homo sapiens |
