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GENATLAS PHENOTYPE
last update : 17-10-2013
Symbol BCAMD1
Location 6q14.1
Name benign concentric annular macular dystrophy 1
Corresponding gene IMPG1
Main clinical features
  • parafoveal hypopigmentation and good visual acuity, but progresses to a retinitis pigmentosa-like phenotype
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     mutation L579P
    Remark(s)