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References OMIM Gene GeneReviews HGMD HGNC
last update : 23/10/2010
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
    Gene product
    Name retinal slow degeneration, photoreceptor peripherin (RDS)
    Remark(s) phenotype might be modulated by additional mutations in other genes (ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype (PMID: 20335603))