{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T13:32:21Z","timestamp":1790343141778,"version":"4.1.0"},"reference-count":44,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Rare Disease"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>The Stickler syndromes are the leading cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. The clinical and molecular genetic spectrum of this connective tissue disorder is discussed in this article, emphasising the key role the ophthalmologist has to play in the identification, diagnosis and prevention of blindness in the increasingly widely recognised sub-groups with ocular-only (or minimal systemic) involvement. Without diagnosis and prophylaxis in such high-risk subgroups, these patients are at high risk of Giant Retinal Tear detachment and blindness, especially in the paediatric population, where late or second eye involvement is common. Initially considered a monogenic disorder, there are now known to be at least 11 distinct phenotypic subgroups in addition to allied connective tissue disorders that can present to the clinician as part of the differential diagnosis.<\/jats:p>\n                  <jats:sec>\n                    <jats:title>Plain language summary<\/jats:title>\n                    <jats:p>Treatment and diagnostic advances in Stickler syndrome The Stickler syndromes are a group of related connective tissue disorders that are associated with short-sight and a very high risk of blindness from detachment of the retina \u2013 the light sensitive film at the back of the eye. Other features include cleft palate, deafness and premature arthritis. It is the most common cause of retinal detachment in children and the most common cause of familial or inherited retinal detachment. In contrast to most other forms of blinding genetic eye disease, blindness from retinal detachment in Stickler syndrome is largely avoidable with accurate diagnosis and prophylactic (preventive) surgery. Recent advances in the understanding of the genetic causes of Stickler syndrome mean that the diagnosis can now be confirmed in over 95% of cases and, most importantly, the patient\u2019s individual risk of retinal detachment can be graded. Preventative surgery is hugely effective in reducing the incidence of retinal detachment in those patients shown to be at high risk. NHS England have led the way in the multidisciplinary care for patients with Stickler syndrome by launching a highly specialist service that has been free at point of care to all NHS patients in England since 2011 ( https:\/\/www.england.nhs.uk\/commissioning\/spec-services\/highly-spec-services , www.vitreoretinalservice.org )<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/2633004020978661","type":"journal-article","created":{"date-parts":[[2020,12,10]],"date-time":"2020-12-10T13:45:43Z","timestamp":1607607943000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":19,"title":["Therapeutic and diagnostic advances in Stickler syndrome"],"prefix":"10.1177","volume":"1","author":[{"given":"Martin","family":"Snead","sequence":"first","affiliation":[{"name":"Vitreoretinal Research Group, NHS England Stickler Syndrome Diagnostic Service, Cambridge University NHS Foundation Trust, University of Cambridge, Addenbrooke\u2019s Hospital, Hill Road, Cambridge CB2 0QQ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard","family":"Martin","sequence":"additional","affiliation":[{"name":"Vitreoretinal Research Group, University of Cambridge and NHS England Stickler Syndrome Diagnostic Service, Cambridge University NHS Foundation Trust, Addenbrooke\u2019s Hospital, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Bale","sequence":"additional","affiliation":[{"name":"Department of Rheumatology Cambridge University NHS Foundation Trust, Addenbrooke\u2019s Hospital, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Shenker","sequence":"additional","affiliation":[{"name":"Department of Rheumatology Cambridge University NHS Foundation Trust, Addenbrooke\u2019s Hospital, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Baguley","sequence":"additional","affiliation":[{"name":"Division of Clinical Neurosciences, School of Medicine, University of Nottingham, Nottingham, UK"},{"name":"NIHR Nottingham Biomedical Research Centre, Ropewalk House, Nottingham, UK"},{"name":"Nottingham Audiology Services, Nottingham University Hospitals, Nottingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Alexander","sequence":"additional","affiliation":[{"name":"Vitreoretinal Research Group, University of Cambridge and NHS England Stickler Syndrome Diagnostic Service, Cambridge University NHS Foundation Trust, Addenbrooke\u2019s Hospital, Cambridge, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annie","family":"McNinch","sequence":"additional","affiliation":[{"name":"Vitreoretinal Research Group, University of Cambridge and NHS England Stickler Syndrome Diagnostic Service, 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