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GENATLAS PHENOTYPE
last update : 23/06/2006
Symbol DHRD
Location 2p16.1
Name Doyne honeycomb retinal dystrophy
Other name(s)
  • autosomal dominant radial Drüsen
  • malattia leventinese
    • Corresponding gene EFEMP1
    related resource Retinal Information Network
    Other symbol(s) ADRD
    Main clinical features
  • characteristically small round white spots (drusen) involving the posterior pole of the eye
  • including the areas of the macula and optic disc, that appear in early adult life
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name EGF containing fibrillin-like extracellar matrix protein 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     presence of peripapillary deposit is highly likely to indicate that a patient carries the R345W mutation
    Remark(s) unlikely to be involved in age-related macular dystrophy