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GENATLAS PHENOTYPE
last update : 03-12-2020
Symbol RP87
Location 1p31.1
Name retinitis pigmentosa 87 with choroidal involvement
Corresponding gene RPE65
Other symbol(s) RPCI
Main clinical features
  • slowly progressive visual disturbance, including night blindness and reduced central and peripheral vision, accompanied by extensive choroid/retinal atrophy that mimics certain aspects of choroideremia
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Remark(s)