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GENATLAS PHENOTYPE
last update : 24-01-2017
Symbol RP77
Location 19p13.3
Name retinitis pigmentosa 77
Corresponding gene REEP6
Main clinical features
  • nyctalopia, with onset varying from early childhood to 20 years of age; gradual decline in vision, characterized by reduced peripheral visual fields followed by reduced visual acuity
  • fundus autofluorescence (FAF) imaging revealed para-foveal rings of increased autofluorescence with widespread mid-peripheral loss of autofluorescence, which had nummular features in three affected individuals
  • ERG demonstrated a severe generalized retinal dystrophy with severely reduced or undetectable responses
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease
    Remark(s)