{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T14:40:54Z","timestamp":1789828854901,"version":"4.0.1"},"reference-count":30,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T00:00:00Z","timestamp":1731283200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070975"],"award-info":[{"award-number":["82070975"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171078"],"award-info":[{"award-number":["82171078"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82101149"],"award-info":[{"award-number":["82101149"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82201204"],"award-info":[{"award-number":["82201204"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["SHDC12023116"],"award-info":[{"award-number":["SHDC12023116"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008750","name":"Shanghai Hospital Development Center Foundation","doi-asserted-by":"publisher","award":["82070975"],"award-info":[{"award-number":["82070975"]}],"id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008750","name":"Shanghai Hospital Development Center Foundation","doi-asserted-by":"publisher","award":["82171078"],"award-info":[{"award-number":["82171078"]}],"id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008750","name":"Shanghai Hospital Development Center Foundation","doi-asserted-by":"publisher","award":["82101149"],"award-info":[{"award-number":["82101149"]}],"id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008750","name":"Shanghai Hospital Development Center Foundation","doi-asserted-by":"publisher","award":["82201204"],"award-info":[{"award-number":["82201204"]}],"id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008750","name":"Shanghai Hospital Development Center Foundation","doi-asserted-by":"publisher","award":["SHDC12023116"],"award-info":[{"award-number":["SHDC12023116"]}],"id":[{"id":"10.13039\/501100008750","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Objective: This study aimed to clarify the genetic diagnosis of rhegmatogenous retinal detachment (RRD) secondary to type I Stickler syndrome (STL1) and evaluate the anatomical and functional outcomes of surgical treatment. Methods: This retrospective study included 11 patients with RRD secondary to STL1. Familial and sporadic cases of STL1 were diagnosed at the Eye &amp; ENT Hospital, Fudan University, between 2017 and 2023. To clarify the genetic diagnosis, next-generation sequencing was performed in suspected STL1 cases. Further, standard ocular examinations and surgical treatment were performed. Results: Nine variants of COL2A1, including four novel mutations (c.394G&gt;T, c.2977G&gt;T, c.3003+2dup, and c.3853G&gt;C), were screened and identified. The pathogenicity of all variants was conclusively demonstrated. Among patients who underwent vitrectomy, the mean age at RRD was 11.5 years, and the mean follow-up was 32.9 months. The average number of surgical procedures required during the follow-up was two; 90.9% of eyes achieved final attachment, and best corrected visual acuity (BCVA) significantly improved in 81.8% of the eyes, with a middle postoperative logMAR BCVA of 0.52 compared with the preoperative value (p = 0.0148). High intraocular pressure (81.8%) and cataract (72.7%) were the most common complications. Conclusions: Our study expands the spectrum of COL2A1 mutations and provides a novel diagnostic strategy for STL1. By combining clinical manifestations with genetic testing, STL1 could be accurately diagnosed. With proper surgical treatment and long-term follow-up, the prognosis of RRD in patients with STL1 could be improved.<\/jats:p>","DOI":"10.3390\/genes15111455","type":"journal-article","created":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T08:01:27Z","timestamp":1731312087000},"page":"1455","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Rhegmatogenous Retinal Detachment Secondary to Type I Stickler Syndrome: Diagnosis, Treatment and Long-Term Outcomes"],"prefix":"10.3390","volume":"15","author":[{"given":"Xin","family":"Chen","sequence":"first","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqiao","family":"Ju","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengjuan","family":"Gao","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Zong","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruiwen","family":"Li","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Chang","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Huang","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,11]]},"reference":[{"key":"ref_1","first-page":"433","article-title":"Hereditary progressive arthro-ophthalmopathy","volume":"40","author":"Stickler","year":"1965","journal-title":"Mayo Clin. Proc."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1531","DOI":"10.2147\/OPTH.S111526","article-title":"Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome","volume":"10","author":"Reddy","year":"2016","journal-title":"Clin. Ophthalmol."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Boothe, M., Morris, R., and Robin, N. (2020). Stickler syndrome: A review of clinical manifestations and the genetics evaluation. J. Pers. Med., 10.","DOI":"10.3390\/jpm10030105"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1097\/00125817-200105000-00008","article-title":"Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): A survey","volume":"3","author":"Stickler","year":"2001","journal-title":"Genet. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/1750-1172-7-84","article-title":"De Leenheer, E.M. Hearing impairment in Stickler syndrome: A systematic review","volume":"7","author":"Acke","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/ajmg.a.30955","article-title":"Stickler syndrome: Clinical characteristics and diagnostic criteria","volume":"138a","author":"Rose","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1633","DOI":"10.1007\/s00417-007-0609-2","article-title":"Outcomes of surgery for retinal detachment in patients with Stickler syndrome: A comparison of two sequential 20-year cohorts","volume":"245","author":"Abeysiri","year":"2007","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1080\/13816810.2020.1747092","article-title":"Ocular complications and prophylactic strategies in Stickler syndrome: A systematic literature review","volume":"41","author":"Boysen","year":"2020","journal-title":"Ophthalmic Genet."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"717","DOI":"10.4103\/ijo.IJO_643_22","article-title":"Pediatric rhegmatogenous retinal detachment: A meta-analysis of clinical features, surgical success rate, and prognostic factors","volume":"71","author":"Abdi","year":"2023","journal-title":"Indian J. Ophthalmol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1097\/IAE.0000000000001725","article-title":"Retinal detachment surgery in a pediatric population: Visual and anatomic outcomes","volume":"38","author":"Read","year":"2018","journal-title":"Retina"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/j.ophtha.2017.01.046","article-title":"Foveal hypoplasia in patients with Stickler syndrome","volume":"124","author":"Matsushita","year":"2017","journal-title":"Ophthalmology"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1016\/j.ophtha.2011.01.028","article-title":"Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?","volume":"118","author":"Thomas","year":"2011","journal-title":"Ophthalmology"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ajo.2024.01.029","article-title":"Genetic characteristics and clinical manifestations of foveal hypoplasia in familial exudative vitreoretinopathy","volume":"262","author":"Ju","year":"2024","journal-title":"Am. J. Ophthalmol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s40246-024-00589-6","article-title":"Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy","volume":"18","author":"Ju","year":"2024","journal-title":"Hum. Genom."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"8365","DOI":"10.1167\/iovs.15-17555","article-title":"Exome sequencing on 298 probands with early-onset high myopia: Approximately one-fourth show potential pathogenic mutations in RetNet Genes","volume":"56","author":"Sun","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1038\/ejhg.2011.223","article-title":"Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations","volume":"20","author":"Richards","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1097\/00125817-200301000-00004","article-title":"The Stickler syndrome: Genotype\/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1","volume":"5","author":"Liberfarb","year":"2003","journal-title":"Genet. Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1002\/ajmg.a.36922","article-title":"A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype","volume":"167a","author":"Terhal","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.exer.2018.02.007","article-title":"Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing","volume":"171","author":"Zhou","year":"2018","journal-title":"Exp. Eye Res."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1007\/s00417-022-05960-8","article-title":"Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021","volume":"261","year":"2023","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1007\/s00417-024-06406-z","article-title":"Outcomes of rhegmatogenous retinal detachment surgery in patients with Stickler syndrome","volume":"262","year":"2024","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"ref_23","first-page":"1","article-title":"Rhegmatogenous retinal detachments associated to Stickler syndrome in a tertiary eye care center in Saudi Arabia","volume":"10","author":"Alshahrani","year":"2016","journal-title":"Clin. Ophthalmol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"2412","DOI":"10.1167\/iovs.14-13967","article-title":"Posterior precortical vitreous pockets and connecting channels in children on swept-source optical coherence tomography","volume":"55","author":"Li","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"e187","DOI":"10.1016\/j.jcjo.2016.06.010","article-title":"Infiltration of hydrogel implant into the sclera with calcification: A case report with histologic findings","volume":"51","author":"Lai","year":"2016","journal-title":"Can. J. Ophthalmol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s40942-020-00210-7","article-title":"Intrusion of episcleral buckles: Report of two cases and brief review","volume":"6","author":"Zarei","year":"2020","journal-title":"Int. J. Retin. Vitr."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3928\/23258160-20211213-02","article-title":"Risk and prevention of retinal detachments in patients with Stickler syndrome","volume":"53","author":"Naravane","year":"2022","journal-title":"Ophthalmic Surg. Lasers Imaging Retin."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1097\/IAE.0000000000003304","article-title":"The prophylaxis of fellow-eye retinal detachment in Stickler syndrome: A retrospective series","volume":"42","author":"Ripandelli","year":"2022","journal-title":"Retina"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1016\/j.ophtha.2014.02.022","article-title":"Prevention of retinal detachment in Stickler syndrome: The Cambridge prophylactic cryotherapy protocol","volume":"121","author":"Fincham","year":"2014","journal-title":"Ophthalmology"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.ophtha.2007.03.059","article-title":"Retinal detachment and prophylaxis in type 1 Stickler syndrome","volume":"115","author":"Ang","year":"2008","journal-title":"Ophthalmology"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/11\/1455\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:30:18Z","timestamp":1760113818000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/15\/11\/1455"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,11]]},"references-count":30,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,11]]}},"alternative-id":["genes15111455"],"URL":"https:\/\/doi.org\/10.3390\/genes15111455","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11,11]]}}}