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GENATLAS PHENOTYPE
last update : 13/12/06
Symbol AVMD
Location 6p21.1
Name adult-onset vitelliform macular dystrophy
Corresponding gene PRPH2
Main clinical features
  • disorder with incomplete penetrance and highly variable expression
  • patients usually symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity
  • slowly progressive visual loss, occasional paracentral drusen, normal to slightly subnormal response on electrooculogram (EOG), normal electroretinogram, and normal color vision
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Remark(s)