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Methylation is an important emerging biomarker of disease and may improve understanding of rare ophthalmic disorders. This systematic review sought to identify and evaluate literature on methylation and rare ophthalmic disease. MEDLINE, EMBASE, PubMed, Cochrane Database of Systematic Reviews and grey literature resources were searched for publications prior to 20 August 2019. Articles written in English which featured key terms such as \u2018methylation\u2019 and rare ophthalmic diseases were included. Titles, abstracts, keywords and full texts of publications were screened, as well as reference lists for reverse citations and Web of Science \u2018cited reference search\u2019 for forward citation searching. Study characteristics were extracted, and methodological rigour appraised using a standardised template. Fourteen articles were selected for full inclusion. Rare ophthalmic conditions include congenital fibrosis of extraocular muscles, retinitis pigmentosa, Fuchs endothelial corneal dystrophy, granular corneal dystrophy, choroideraemia, brittle cornea syndrome, retinopathy of prematurity, keratoconus and congenital cataracts. Outcomes include identification of methylation as contributor to disease and identification of potential novel therapeutic targets. The studies included were heterogeneous with no scope for meta-analysis following review; a narrative synthesis was undertaken. Differential methylation has been identified in a small number of rare ophthalmic diseases and few studies have been performed to date. Further multiomic research will improve understanding of rare eye diseases and hopefully lead to improved provision of diagnostic\/prognostic biomarkers, and help identify novel therapeutic targets.<\/jats:p>","DOI":"10.1136\/bmjophth-2019-000342","type":"journal-article","created":{"date-parts":[[2019,11,14]],"date-time":"2019-11-14T05:25:14Z","timestamp":1573709114000},"page":"e000342","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Systematic review of differential methylation in rare ophthalmic diseases"],"prefix":"10.1136","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8469-8885","authenticated-orcid":false,"given":"Katie","family":"Kerr","sequence":"first","affiliation":[{"name":"Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Queen's University Belfast School of Medicine, Dentistry and Biomedical Sciences, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"McAneney","sequence":"additional","affiliation":[{"name":"Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Queen's University Belfast School of Medicine, Dentistry and Biomedical Sciences, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Smyth","sequence":"additional","affiliation":[{"name":"Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Queen's University Belfast School of Medicine, Dentistry and Biomedical Sciences, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryl","family":"Flanagan","sequence":"additional","affiliation":[{"name":"The 100,000 Genomes Project Team, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Silvestri","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Belfast Health and Social Care Trust, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micheal Andrew","family":"Nesbitt","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, Biomedical Sciences Research Institute, Ulster University, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Wooster","sequence":"additional","affiliation":[{"name":"Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Queen's University Belfast School of Medicine, Dentistry and Biomedical Sciences, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy Jayne","family":"McKnight","sequence":"additional","affiliation":[{"name":"Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Queen's University Belfast School of Medicine, Dentistry and Biomedical Sciences, Belfast, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,11,13]]},"reference":[{"key":"2025090110161331000_4.1.e000342.1","unstructured":"Global Genes . 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