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GENATLAS PHENOTYPE
last update : 01-12-2015
Symbol RP70
Location 9q32
Name retinitis pigmentosa 70
Corresponding gene PRPF4
Main clinical features
  • at age 15 years poor night vision, and subsequently visual field (VF) restriction and impaired central vision
  • cataracts and a typical RP fundus, exhibiting retinal degeneration with macular involvement, waxy pallor of the optic disc, narrowed vasculature, and peripheral pigment deposits
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Remark(s)