Congenital choroideremia and CHM gene

Abstract

Choroideremia (CHM) is known as a genetic heterogeneous X-linked recessive disease associated with different types of mutations in the CHM gene.Affected males develop night blindness in their teenage years,followed by loss of peripheral vision because of the progressive visual field constriction,and blindness.CHM has been recognized as clinically distinct from other retinal degenerations for more than half a century.So far,no effective treatment exists for either disease.General advice is offered to patients regarding minimizing their exposure to ultraviolet light and optimizing their general wellbeing through a healthy lifestyle.Some groups are now testing cell-based therapies.Transplantation of autologous transduced iris pigment epithelial (IPE) cells into the subretinal space might help CHM patients in the future. Key words: congenital choroideremia; CHM gene; mutation