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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 25/08/2006
Symbol AIED
Location Xp11.4-q21
HGNC id 351
Name Aland Island eye disease
Other name(s)
  • Forsius-Eriksson type . albinism, ocular, type 2
  • Corresponding gene CACNA1F
    related resource Retinal Information Network
    Other symbol(s) OA2
    Main clinical features
  • albinism of the fundus, hypoplasia of the fovea, marked impairment of vision, nystagmus, myopia, astigmatism, and protanomalous colorblindness . female carriers showed slight disturbances of color discrimination and electromyographically demonstrable nystagmus
  • Genetic determination sex linked
    Function/system disorder eye
    Type disease