Choroideremia

Choroideremia is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. The disease is caused by mutations in the CHM gene which is known to be related to membrane transportation protein in the retina and RPE. Male-affected cases have nyctalopia and progressive reduction in visual acuity. Female-affected cases are carriers. This disease is considered incurable, although new promising treatments have been recently introduced such as gene therapy, stem cells, small molecules, and retinal prosthesis.