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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 05/04/2011
Symbol MCDR2
Location 4p15.32
HGNC id 18438
Name macular dystrophy, retinal, 2, bull's-eye
Corresponding gene PROM1
Main clinical features
  • in the first or second decade of life, mild visual impairment and central scotomata
  • bilateral annular atrophy of retinal pigment epithelium at the macula
  • associated with rod, rod-cone, and macular dystrophy
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name prominin 1
    Remark(s)