Choroideremia: Update On Clinical Features And Emerging Treatments

Abstract

Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium and retina. This disease is caused by mutations in the X-linked CHM gene encoding a Ras-related GTPase Rab escort protein (REP)-1, which is extremely important for the retinal function. Clinically, male-affected patients have a progressive reduction in visual acuity. This disease is formally considered incurable, although new promising treatments have been recently introduced. In this article, a review of the salient pathogenetic features of choroideremia, essential for the proper interpretation of therapeutic approaches, is followed by a discussion of the fundamental clinical features of this hereditary disease. Finally, relevant new therapeutic approaches in this disease will be discussed, including gene therapy, stem cells, small molecules, and retinal prosthesis.

Keywords:

• choroideremia
• heredodystrophies
• gene
• therapy
• clinical trials
• stem cells
• gene therapy
• small molecules
• retinal prosthesis

Disclosure

Professor Francesco Bandello reports personal fees from Allergan, Bayer, BoehringerIngelheim, Fidia Sooft, Hoffmann-La Roche, Novartis, NTC Pharma, SIFI, ThromboGenics and from Zeiss, outside the submitted work. The authors report no other conflicts of interest in this work.