Choroideremia and Ocular Genetic Researches

Choroideremia is a genetic chorioretinal degeneration that starts in the anterior retina and progresses to the posterior pole as a result of mutations in the CHM gene located at the Xq21.2 locus. Defective synthesis of Rab escort protein (REP-1) affects the transport and trafficking of intracellular lipid membrane-bound molecules. Transfer of the CHM gene with Adenovirus-associated viruses (AAV) resulted in increased REP-1 protein synthesis and improved intracellular transport defects. Several clinical studies have evaluated the anatomical and functional success of Timrepigene emparvovec (AAV2-REP1 or BIIB111) molecule injected into the subretinal space after pars plana vitrectomy. The results of intravitreal injection of recombinant AAV gene preparation (4D-110) instead of subretinal administration are still under investigation.