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GENATLAS PHENOTYPE
last update : 23/05/2012
Symbol ARRP15
Location 1q41
Name retinitis pigmentosa autosomal recessive, 15, non syndromic
Corresponding gene USH2A
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 usherin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     mutation C759F
    missense     c.2802T>G; p.C934W and c.8232G>C; p.W2744C in Chinese families (PMID:21686329)
    Remark(s)