Pathogenic mechanisms and the prospect of gene therapy for choroideremia

Abstract

Introduction: Choroideremia is a rare, X-linked disorder recognized by its specific ocular phenotype as a progressive degenerative retinopathy resulting in blindness. New therapeutic approaches, primarily based on genetic mechanisms, have emerged that aim to prevent the progressive vision loss.

Areas covered: This article will review the research that has progressed incrementally over the past two decades from mapping to gene discovery, uncovering the presumed mechanisms triggering the retinopathy to preclinical testing of potential therapies.

Expert opinion: While still in an evaluative phase, the introduction of gene replacement as a potential therapy has been greeted with great enthusiasm by patients, advocacy groups and the medical community.

Keywords:

• choroideremia
• gene therapy
• REP1
• retina

Acknowledgments

The expert assistance of Robert Fariss, PhD, Chief at NEI Biological Imaging Core Facility, in the acquisition of confocal images is greatly appreciated. The authors collaborated with the ophthalmology medical writing team at Journal Prep during the preparation of this manuscript.

Declaration of interest

RE MacLaren has received funding from the NIHR Biomedical Research Centre (Oxford and Moorfields), the Wellcome Trust and the UK Department of Health. IM MacDonald has received CIHR Emerging Team, FFB Canada, Choroideremia Research Foundation Canada Inc. and Alberta Innovates - Health Solutions Collaborative Research and Innovation Opportunities (CRIO) Project grants. The authors collaborated with the ophthalmology medical writing team at Journal Prep during the preparation of this manuscript. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Notes

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