Choroideremia

X linked degeneration of the choroid and retina

Overview

Choroideremia is a rare inherited disease in which the choroid, the vascular layer beneath the retina, and the overlying retinal pigment epithelium and photoreceptors gradually degenerate. It is caused by variants in the CHM gene on the X chromosome, so it mainly affects males, while female carriers may show milder changes. Night blindness usually appears in childhood, followed by progressive loss of peripheral vision, with central vision often preserved until later in life. It has been an important early target for retinal gene therapy research.