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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