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GENATLAS PHENOTYPE
last update : 01-12-2015
Symbol RP20
Location 1p31.3
HGNC id 10275
Name retinitis pigmentosa 20
Corresponding gene RPE65
related resource Retinal Information Network
Other symbol(s) ARRP9, CSRD
Main clinical features
  • variable expression retinal dystrophy 8, childhood-onset, affecting rod and cone photoreceptors
  • characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment
    • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Gene product
    Name retinal pigment epithelium specific 65 (RPE65), probably the all-transretinal isomerase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mostly frequent (R91W)
    Remark(s)