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GENATLAS PHENOTYPE
last update : 07-04-2014
Symbol ARRP1
Location 3q22.1
Name retinitis pigmentosa autosomal recessive, 1
Corresponding gene RHO
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
  • as the disorder progressed, these areas became confluent
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name rhodopsin (RHO)
    Remark(s)