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Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments

Mitsios, A; Dubis, AM; Moosajee, M; (2018) Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments. Therapeutic Advances in Ophthalmology , 10 10.1177/2515841418817490. (In press). Green open access

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Abstract

Choroideremia is an X-linked inherited chorioretinal dystrophy leading to blindness by late adulthood. Choroideremia is caused by mutations in the CHM gene which encodes Rab escort protein 1 (REP1), an ubiquitously expressed protein involved in intracellular trafficking and prenylation activity. The exact site of pathogenesis remains unclear but results in degeneration of the photoreceptors, retinal pigment epithelium and choroid. Animal and stem cell models have been used to study the molecular defects in choroideremia and test effectiveness of treatment interventions. Natural history studies of choroideremia have provided additional insight into the clinical phenotype of the condition and prepared the way for clinical trials aiming to investigate the safety and efficacy of suitable therapies. In this review, we provide a summary of the current knowledge on the genetics, pathophysiology, clinical features and therapeutic strategies that might become available for choroideremia in the future, including gene therapy, stem cell treatment and small-molecule drugs with nonsense suppression action.

Type: Article
Title: Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1177/2515841418817490
Publisher version: https://doi.org/10.1177/2515841418817490
Language: English
Additional information: Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage
Keywords: REP1, choroideremia, gene therapy, nonsense suppression therapy, retinal dystrophy, stem cells
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10066571
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