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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.<\/jats:p>","DOI":"10.1177\/2515841418817490","type":"journal-article","created":{"date-parts":[[2018,12,27]],"date-time":"2018-12-27T06:17:28Z","timestamp":1545891448000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":36,"title":["Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments"],"prefix":"10.1177","volume":"10","author":[{"given":"Andreas","family":"Mitsios","sequence":"first","affiliation":[{"name":"Institute of Ophthalmology, University College London, London, UK"},{"name":"Moorfields Eye Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam M.","family":"Dubis","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, University College London, London, UK"},{"name":"NIHR Biomedical Research Centre, Moorfields Eye Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1688-5360","authenticated-orcid":false,"given":"Mariya","family":"Moosajee","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, University College London, London, UK"},{"name":"NIHR Biomedical Resource Centre at Moorfields Eye Hospital, London, UK"},{"name":"Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2018,12,27]]},"reference":[{"key":"bibr1-2515841418817490","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.183."},{"key":"bibr2-2515841418817490","doi-asserted-by":"publisher","DOI":"10.1586\/14737159.4.4.478"},{"key":"bibr3-2515841418817490","unstructured":"U.S. National Library of Medicine, National Institutes of Health, Department of Health & Human Services. 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