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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02083A6NGG838893
PCARE
Photoreceptor cilium actin regulator
Homo sapiens
PTMD01423O433959129
PRPF3
U4/U6 small nuclear ribonucleoprotein Prp3
Homo sapiens
PTMD01107P548454901
NRL
Neural retina-specific leucine zipper protein
Homo sapiens
PTMD01123Q1286610461
MERTK
Tyrosine-protein kinase Mer
Homo sapiens
PTMD02279O002947287
TULP1
Tubby-related protein 1
Homo sapiens
PTMD02790O438373420
IDH3B
Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial -specific ICDH subunit beta)
Homo sapiens
PTMD03155O7564323020
SNRNP200
U5 small nuclear ribonucleoprotein 200 kDa helicase
Homo sapiens
PTMD03168O756956102
RP2
Protein XRP2
Homo sapiens
PTMD03312O9490624148
PRPF6
Pre-mRNA-processing factor 6
Homo sapiens
PTMD03858P081006010
RHO
Rhodopsin
Homo sapiens
PTMD04046P107455949
RBP3
Retinol-binding protein 3
Homo sapiens
PTMD04281P164995145
PDE6A
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
Homo sapiens
PTMD04363P185455148
PDE6G
Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
Homo sapiens
PTMD04452P208393614
IMPDH1
Inosine-5'-monophosphate dehydrogenase 1
Homo sapiens
PTMD04508P222231001
CDH3
Cadherin-3
Homo sapiens
PTMD04538P22748762
CA4
Carbonic anhydrase 4
Homo sapiens
PTMD04756P299731259
CNGA1
Cyclic nucleotide-gated channel alpha-1
Homo sapiens
PTMD05685P567156101
RP1
Oxygen-regulated protein 1
Homo sapiens
PTMD07090Q165186121
RPE65
Retinoid isomerohydrolase
Homo sapiens
PTMD07311Q3B82084140
FAM161A
Protein FAM161A
Homo sapiens
PTMD07386Q49MI337529
CERKL
Ceramide kinase-like protein
Homo sapiens
PTMD08240Q6P2Q910594
PRPF8
Pre-mRNA-processing-splicing factor 8
Homo sapiens
PTMD08947Q86SQ979947
DHDDS
Dehydrodolichyl diphosphate synthase complex subunit DHDDS
Homo sapiens
PTMD09820Q8N8E213055
ZNF513
Zinc finger protein 513
Homo sapiens
PTMD10015Q8NDN955213
RCBTB1
RCC1 and BTB domain-containing protein 1
Homo sapiens
PTMD10101Q8NFJ9582
BBS1
Bardet-Biedl syndrome 1 protein
Homo sapiens
PTMD10627Q8WWY326121
PRPF31
U4/U6 small nuclear ribonucleoprotein Prp31
Homo sapiens
PTMD12433Q9BZV350939
IMPG2
Interphotoreceptor matrix proteoglycan 2
Homo sapiens
PTMD12749Q9H3S164218
SEMA4A
Semaphorin-4A
Homo sapiens
PTMD13422Q9NS5610210
TOPORS
E3 ubiquitin-protein ligase Topors
Homo sapiens
PTMD14987Q9Y5X410002
NR2E3
Photoreceptor-specific nuclear receptor
Homo sapiens