Choroideremia

Definition:

Choroideremia (CHM) is an X-linked retinal dystrophy characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the CHM gene, which encodes a protein involved in vesicular trafficking.

References:

[1]. Razek Georges Coussa, et al. Choroideremia: a review of general findings and pathogenesis. Ophthalmic Genet. 2012 Jun;33(2):57-65. [Content Brief]

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