Latest progress on diagnosis and treatment of choroideremia

Abstract

Choroideremia(CHM)is a kind of blindness-causing hereditary disease, inherited in a gene on the long arm of X chromosome, caused by the CHM gene deletion or mutation which encoding Rab escort protein 1(REP-1), and is characterized by binocular, progressive chorioretinal degeneration. This desease is X-linked recessive inherited disorder. The vision will lose gradually as the atrophying of retinal photoreceptor, RPE and choriocapillary. The virulence gene of choroideremia is CHM, located in Xq21.2, coding REP-1. Typically, in affected males, symptoms evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Female carriers are generally asymptomatic. At present, there are detailed diagnostic criteria with CHM. Gene therapy and the retina transplantation are considered as possible treatments in recent years. The preclinical studies of AAV2 and AAV8 have been completed. A safety trial of AAV2-mediated gene therapy in human subjects with CHM has been completed.

Keywords

• choroideremia
• rab escort protein 1
• gene mutation
• gene therapy