choroidal dystrophy, central areolar type 2

(redirected from progressive macular dystrophy)

choroidal dystrophy, central areolar type 2

A disorder (OMIM:613105) that affects the posterior pole of the eye. Early lesions consist of a non-specific patch of granular hyperpigmentation at the fovea; the characteristic feature of the disease—a sharply-demarcated area of macular atrophy of the pigment epithelium and choriocapillaris—occurs several decades after onset. 

Molecular pathology
Defects of PRPH2, which encodes peripherin 2, cause central areolar choroidal dystrophy type 2.
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Another doctor concluded that the patient was suffering from BEST Syndrome, a hereditary form of progressive macular dystrophy -- an eye disorder which can cause vision loss.

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