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GENATLAS PHENOTYPE
last update : 03-12-2020
Symbol ARRP17
Location 20p13
Name retinitis pigmentosa autosomal recessive, 17
Corresponding gene IDH3B
Other symbol(s) RP46
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
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function leading to substantial reduction of IDHB3 activity, indispensable for the retina
    Remark(s)