Title: CHOROIDEREMIA
Description: It's rare X-Linked Retinal Degeneration that typically affects males, characterized by progressive degeneration of the Retinal Pigment Epithelium, Photoreceptors and Choriocapillaris.
In late stages the underlying sclera is exposed due to complete Chorioretinal Dystrophy, hence the name Choroid “Eremia” (Greek for Bare). It's caused by a mutation of the CHM gene which leads to defects in Intracellular Vesicular trafficking and subsequent RPE, Photoreceptor and Choroidal Degeneration.
Patients present with night blindness and peripheral vision loss in teenage years. Central vision is maintained until the 5th or 6th decade of life but then can rapidly deteriorate. Carriers are mostly unaffected. On fundus exam, the earliest sign is diffuse pigment clumping followed by atrophy with visible sclera and choroidal vessels. Atrophy progresses centripetally and the fovea is the last to become affected. There are currently no treatments available but gene therapy trials are underway.
