{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:12:10Z","timestamp":1791317530699,"version":"4.3.1"},"reference-count":26,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,6,26]],"date-time":"2022-06-26T00:00:00Z","timestamp":1656201600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Stickler syndromes are inherited conditions caused by abnormalities of structural proteins in the eye, inner ear and cartilage. The risk of retinal detachment, particularly due to the development of giant retinal tears, is high. Stickler syndrome is the most common cause of childhood retinal detachment. Although retinal detachment surgery in the general population has a high success rate, outcomes from surgical repair in Stickler syndrome patients are notoriously poor, providing a strong argument for prophylactic intervention. Variable case selection, absence of molecular genetic sub-typing and inconsistent treatment strategies have all contributed to the historic uncertainty regarding the safety and efficacy of prophylactic treatment. This paper reviews the major published clinical studies that have evaluated different methods and strategies for prophylaxis. Based on the current body of literature, there is extremely strong evidence from cohort comparison studies demonstrating the efficacy and safety of prophylactic retinopexy to reduce, but not eliminate, the risk of retinal detachment in Stickler syndrome patients. It is vital that this body of evidence is provided to Stickler syndrome patients, to enable them to make their own fully informed choice about whether to receive prophylaxis for themselves and particularly on behalf of their affected children, to reduce the risk of retinal detachment.<\/jats:p>","DOI":"10.3390\/genes13071150","type":"journal-article","created":{"date-parts":[[2022,6,26]],"date-time":"2022-06-26T09:00:13Z","timestamp":1656234013000},"page":"1150","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Prevention of Blindness in Stickler Syndrome"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2399-4154","authenticated-orcid":false,"given":"Philip","family":"Alexander","sequence":"first","affiliation":[{"name":"NHS England Stickler Syndrome Highly Specialised Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK"},{"name":"Vitreoretinal Service, Addenbrooke\u2019s Hospital, Hills Road, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0042-8659","authenticated-orcid":false,"given":"Martin P.","family":"Snead","sequence":"additional","affiliation":[{"name":"NHS England Stickler Syndrome Highly Specialised Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK"},{"name":"Vitreoretinal Service, Addenbrooke\u2019s Hospital, Hills Road, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK"},{"name":"Vitreoretinal Research Group, John van Geest Centre for Brain Repair, University of Cambridge, Forvie Site, Cambridge CB2 0PY, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,26]]},"reference":[{"key":"ref_1","unstructured":"UK Department of Health and Social Care (2018). 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