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Choroideremia: Update On Clinical Features And Emerging Treatments

Authors Brambati M, Borrelli E, Sacconi R, Bandello F, Querques G

Received 14 August 2019

Accepted for publication 5 November 2019

Published 18 November 2019 Volume 2019:13 Pages 2225—2231


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Scott Fraser

Maria Brambati, Enrico Borrelli, Riccardo Sacconi, Francesco Bandello, Giuseppe Querques

Ophthalmology Department, San Raffaele University Hospital, Milan, Italy

Correspondence: Giuseppe Querques
Department of Ophthalmology, University Vita-Salute San Raffaele, Via Olgettina 60, Milan, Italy
Tel +390226432648
Fax +390226433643

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

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