DEFINITION: Mutations in the CHM gene cause choroideremia.
INHERITANCE: X-linked dominant
INHERITANCE: X-linked dominant
KEY FEATURES: Choroideremia is an X-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye.
The characteristic lesion of choroideremia is chorioretinal scalloped atrophy in the midperipheral fundus, with preservation of the macula. Onset is usually in second to third decade. Night blindness occurs first, then visual fields is constricted with reduced central vision.
There is a progressive vision loss in males & in some carrier females. Carrier females show a distinct flecked autofluorescence pattern.
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