{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T04:04:59Z","timestamp":1777953899085,"version":"3.51.4"},"reference-count":35,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Br J Ophthalmol"],"accepted":{"date-parts":[[2026,4,18]]},"abstract":"<jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>\n                      Stickler syndrome is a genetically inherited vitreoretinopathy that can lead to retinal detachment from early childhood. There is currently no consensus preventive treatment. We aimed at determining whether sex influences the age of onset of rhegmatogenous retinal detachment (RRD) in\n                      <jats:italic>COL2A1<\/jats:italic>\n                      and\n                      <jats:italic>COL11A1<\/jats:italic>\n                      Stickler patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This is a retrospective study including genotyped Stickler patients from two tertiary centres with at least one RRD. We analysed differences in the age of occurrence of RRD according to sex and genetic mutation. A multivariate analysis was used to analyse risk factors for RRD including sex, presence of preventive treatment, congenital myopia or extra-ophthalmologic conditions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      58 patients with at least one RRD were included. In girls with\n                      <jats:italic>COL2A1<\/jats:italic>\n                      variants (n=30), the average age of RRD onset was later (21.3 (\u00b114.5) years; range: 5.4\u201366.0), and the age distribution was broader than in boys with\n                      <jats:italic>COL2A1<\/jats:italic>\n                      variants (n=19, 10.07 (\u00b15.7) years; range: 0.5\u201319.7; p&lt;0.0001). Among\n                      <jats:italic>COL11A1<\/jats:italic>\n                      patients, there was no significant difference in age of RRD between boys and girls. Preventive treatment (360\u00b0 laser or scleral buckling) was the only independent protective factor for RRD (RR=\u22120.49 (\u00b10.002); p&lt;0.001).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      In\n                      <jats:italic>COL2A1<\/jats:italic>\n                      -Stickler syndrome, males tend to experience RRD at an earlier age. In\n                      <jats:italic>COL11A1<\/jats:italic>\n                      -Stickler patients, RRD occurs earlier in life but no sex difference was found. Based on these findings, if preventive treatment is considered, it should be performed before puberty, particularly earlier in boys with COL2A1-related Stickler syndrome and in both male and female patients with COL11A1 variants.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bjo-2025-328779","type":"journal-article","created":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T17:20:17Z","timestamp":1777915217000},"page":"bjo-2025-328779","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Sex-based differences in retinal detachment in a genotyped Stickler syndrome cohort: implications for preventive management"],"prefix":"10.1136","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5458-9979","authenticated-orcid":false,"given":"Ys\u00e9","family":"Borella","sequence":"first","affiliation":[{"name":"Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cit\u00e9 University, Paris, \u00cele-de-France, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoine","family":"Constant","sequence":"additional","affiliation":[{"name":"Service d\u2019ophtalmologie (Ophtalmop\u00f4le), H\u00f4pital Cochin, AP-HP, Paris Cit\u00e9 University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4984-4768","authenticated-orcid":false,"given":"Pierre-Rapha\u00ebl","family":"Rothschild","sequence":"additional","affiliation":[{"name":"Service d\u2019ophtalmologie (Ophtalmop\u00f4le), H\u00f4pital Cochin, AP-HP, Paris Cit\u00e9 University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthieu P.","family":"Robert","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cit\u00e9 University, Paris, \u00cele-de-France, France"},{"name":"Centre Borelli, Paris Cit\u00e9 University, ENS-Saclay, CNRS, INSERM, SSA, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyril","family":"Burin Des Roziers","sequence":"additional","affiliation":[{"name":"Genomic Medicine Department of systemic and organ diseases, Cochin hospital, APHP. Paris City University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Valleix","sequence":"additional","affiliation":[{"name":"Genomic Medicine Department of systemic and organ diseases, Cochin hospital, APHP. Paris City University, Paris, France"},{"name":"INSERM, UMRS1138, Team 17, From physiopathology of ocular diseases to clinical development, Sorbonne Paris Cit\u00e9 University, Centre de Recherche des Cordeliers, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoine P.","family":"Brezin","sequence":"additional","affiliation":[{"name":"Service d\u2019ophtalmologie (Ophtalmop\u00f4le), H\u00f4pital Cochin, AP-HP, Paris Cit\u00e9 University, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3563-5482","authenticated-orcid":false,"given":"Dominique","family":"Bremond Gignac","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cit\u00e9 University, Paris, \u00cele-de-France, France"},{"name":"INSERM, UMRS1138, Team 17, From physiopathology of ocular diseases to clinical development, Sorbonne Paris Cit\u00e9 University, Centre de Recherche des Cordeliers, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7907-4325","authenticated-orcid":false,"given":"Alejandra","family":"Daruich","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cit\u00e9 University, Paris, \u00cele-de-France, France"},{"name":"INSERM, UMRS1138, Team 17, From physiopathology of ocular diseases to clinical development, Sorbonne Paris Cit\u00e9 University, Centre de Recherche des Cordeliers, Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,5,4]]},"reference":[{"key":"2026050410201267000_bjo-2025-328779v1.1","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/S0025-6196(25)14186-4","article-title":"HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY","volume":"40","author":"STICKLER","year":"1965","journal-title":"Mayo Clin Proc"},{"key":"2026050410201267000_bjo-2025-328779v1.2","unstructured":"Mortier G , et al . Stickler syndrome. In: GeneReviews\u00ae. Seattle (WA): University of Washington, 1993."},{"key":"2026050410201267000_bjo-2025-328779v1.3","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2025.1485874","article-title":"Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment","volume":"16","author":"Zhou","year":"2025","journal-title":"Front Genet"},{"key":"2026050410201267000_bjo-2025-328779v1.4","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/ceo.14494","article-title":"Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management","volume":"53","author":"Ghoraba","year":"2025","journal-title":"Clin Exp Ophthalmol"},{"key":"2026050410201267000_bjo-2025-328779v1.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.5.353"},{"key":"2026050410201267000_bjo-2025-328779v1.6","unstructured":"Le syndrome de Stickler . Haute autorit\u00e9 de sant\u00e9. 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