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GENATLAS PHENOTYPE

last update : 2/06/2008

Symbol	CHM
Location	Xq21.2
Name	choroideremia
Other name(s)	tapetochoroidal dystrophy, progressive
Corresponding gene	CHM
related resource	REP1Mutations Retinal Information Network
Other symbol(s)	TCD
Main clinical features	slowly progressive degeneration of the retina, retinal pigment epithelium, and choroid . degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor leading to progressive loss of vision (reduction of central vision, constriction of visual fields, night blindness) beginning at an early age, and the choroid and retina undergo complete atrophy
Genetic determination	sex linked
Prevalence	1 in 100,000
Function/system disorder	eye
Type	disease