Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 03-12-2020
Symbol ARRP20
Location 2p23.3
Name retinitis pigmentosa autosomal recessive, 20
Corresponding gene ZNF513
Other symbol(s) RP58
Main clinical features
  • characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
  • in the early stages, the fundus was characterized by a gray granular appearance in areas of focal thinning of retinal pigment epithelium, exposing the choroid
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s) .C339R mutation interferes with retinal development and photoreceptor survival through disruption of the specific binding of ZNF513 to a subset of these genes (PMID: 20797688))