autosomal dominant retinitis pigmentosa
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
retinal dystrophy |
| gptkbp:affects |
retina
|
| gptkbp:cause |
night blindness
progressive vision loss peripheral vision loss |
| gptkbp:diagnosedBy |
genetic testing
fundus examination electroretinography |
| gptkbp:hasOrphanetID |
ORPHA:791
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal dominant retinitis pigmentosa
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D012174
|
| gptkbp:mutationAssociatedWith |
PRPF31 gene
PRPH2 gene RHO gene RP1 gene |
| gptkbp:OMIM |
180380
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
tunnel vision
difficulty adapting to darkness photopsia |
| gptkbp:treatment |
gene therapy (experimental)
vitamin A supplementation low vision aids |
| gptkbp:bfsParent |
gptkb:IMPDH1_gene
|
| gptkbp:bfsLayer |
7
|