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Recent advances and future prospects in choroideremia

Authors Zinkernagel M, MacLaren R

Received 30 August 2015

Accepted for publication 8 October 2015

Published 23 November 2015 Volume 2015:9 Pages 2195—2200

DOI https://doi.org/10.2147/OPTH.S65732

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Gokcen Gökçe

Peer reviewer comments 3

Editor who approved publication: Dr Scott Fraser


Martin S Zinkernagel,1,2 Robert E MacLaren3,4

1Department of Ophthalmology, 2Department of Clinical Research, Inselspital, Bern University Hospital, and University of Bern, Bern, Switzerland; 3Nuffield Laboratory of Ophthalmology, University of Oxford and Oxford Eye Hospital, Oxford University NHS Trust NIHR Biomedical Research Centre, Oxford, UK; 4Moorfields Eye Hospital NIHR Biomedical Research Centre, London, UK

Abstract: Choroideremia is a complex and rare disease that is frequently misdiagnosed due to its similar appearance to classic retinitis pigmentosa. Recent advances in genetic testing have identified specific genetic mutations in many retinal dystrophies, and the identification of the mutation of the CHM gene on the X chromosome 25 years ago has paved the way for gene replacement therapy with the first human trials now underway. This article reviews the epidemiological and pathological features of choroideremia and new prospects in imaging to monitor disease progression, as well as potential treatment approaches for choroideremia.

Keywords: choroideremia, gene replacement therapy, retinal imaging, clinical trials

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