Symbol
| RP7
|
Location
| 6p21.1
|
HGNC id
| 10287
|
Name
|
retinitis pigmentosa 7 |
Other name(s)
|
retinitis pigmentosa, peripherin-related |
Corresponding gene
|
PRPH2
|
related resource
| Retinal Information Network
|
Other symbol(s)
| PRPH, TSPAN22, rd2 , RDS, AOFMD, AVMD, DS, CACD2
|
Main clinical features
|
autosomal dominant retinitis pigmentosa characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
also responsible for a wide phenotypic spectrum of retinal dystrophies as retinitis punctata albescens, cone–rod dystrophy, cone dystrophy, adult vitelliform macular dystrophy, fundus flavimaculatus, pattern dystrophy, and macular dystrophy |
Genetic determination
| autosomal dominant |
Related entries
| including retinitis punctata albescens
|
Function/system disorder
| eye |
Type
| disease
|