Open Access<p>Choroideremia: Update On Clinical Features And Emerging Treatments</p>
Author(s) -
Maria Brambati,
Enrico Borrelli,
Riccardo Sacconi,
Francesco Bandello,
Giuseppe Querques
Publication year - 2019
Publication title -
clinical ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 56
eISSN - 1177-5483
pISSN - 1177-5467
DOI - 10.2147/opth.s195564
Subject(s) - choroideremia , medicine , retinal pigment epithelium , retinal , ophthalmology , genetic enhancement , dystrophy , choroid , retina , visual acuity , keratoconus , disease , bioinformatics , pathology , gene , genetics , neuroscience , cornea , biology
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.