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References OMIM Gene GeneReviews HGMD HGNC
last update : 07-04-2014
Symbol RP4
Location 3q22.1
HGNC id 10284
Name retinitis pigmentosa 4, type I and others
Corresponding gene RHO
related resource Retinal Information Network
Other symbol(s) ADRP1, RP5
Main clinical features
  • characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
  • Genetic determination autosomal dominant
    Prevalence 10p100 of retinitis pigmentosa cases worldwide
    Related entries . including some retinitis punctata albescens, the first most common ADRP locus (20-31%)
    Function/system disorder eye
    Type disease
    Gene product
    Name rhodopsin (RHO)
  • most mutations result in endoplasmic reticulum retention and apoptosis (PMID: 23940033))