Choroideremia: An Overview

Choroideremia (CHM) is a rare, X-linked recessive chorioretinal dystrophy characterized by the progressive degeneration of the choriocapillaris, retinal pigment epithelium (RPE), and photoreceptors. The condition was first described by the Austrian ophthalmologist Ludwig Mauthner in 1872. The genetic basis was elucidated in 1990 when potential cloning identified the CHM gene located on chromosome Xq21.2.