Choroideremia

Overview

What is choroideremia?

Choroideremia is a genetic disease of the eye. This condition results in degeneration, or loss of function, of the light-sensing tissue (retina) and the vascular layer (choroid) of the eyes. The degeneration is progressive, meaning that it worsens over time, and results in vision loss.

Choroideremia is most often diagnosed in males. Some females may have mild symptoms of choroideremia in late adulthood and, only in rare cases, are females as severely affected as males.

https://www.ncbi.nlm.nih.gov/books/NBK1337/

Coussa RG, Traboulsi EI. Choroideremia: a review of general findings and pathogenesis. Ophthalmic Genet. 2012;33:57-65.

https://ghr.nlm.nih.gov/condition/choroideremia

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