{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Carpenter CM"],"funding":["National Center for Advancing Translational Sciences","Shandong Province Natural Science Foundation","National Center for Research Resources","NEI NIH HHS","NCATS NIH HHS","National Eye Institute","Research to Prevent Blindness","University of Utah","Eye Bank Association of America","Science and Technology Development Plan of Shandong Province","National Natural Science Foundation of China","National Institutes of Health"],"pagination":["194-203"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12695437"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10(2)"],"pubmed_abstract":["<h4>Topic</h4>To compare the relative risk of retinal detachment between patients with COL2A1 and COL11A1 Stickler syndrome.<h4>Clinical relevance</h4>It is unclear whether the rate of retinal detachment differs between COL2A1 and COL11A1 Stickler syndrome. Previous studies included too few patients to detect a difference between genotypes.<h4>Methods</h4>Individual patient data meta-analysis of cohort studies, case-control studies, cross-sectional studies, case series, and case reports across the MEDLINE, Embase, Scopus, Web of Science Core Collection, and Web of Science Preprint Citation Index databases from 1991 to 2025. Articles providing eye examination results in subjects with genetically confirmed COL2A1 or COL11A1 Stickler syndrome were included. From the included articles, individual patient data on affected gene, age at last follow-up, and presence or absence of retinal detachment were extracted. Patients who had prophylactic retinopexy were excluded. A mixed effects logistic regression adjusted for clustering by article and family was used to determine the relative risk of retinal detachment. A risk of bias was evaluated using the JBI Critical Appraisal Checklist for Case Series. The study was prospectively registered with the International Prospective Register of Systematic Reviews (CRD42023428144). The overall certainty of evidence was evaluated with Grading of Recommendations, Assessment, Development, and Evaluation.<h4>Results</h4>Of the 1420 articles screened, 179 were eligible for inclusion, and 141 provided individual patient data for a total of 673 patients from 430 families. Retinal detachment was present in 229 of 491 (47%) patients with COL2A1 Stickler syndrome and 51 of 182 (28%) patients with COL11A1 Stickler syndrome. The relative risk of retinal detachment was 1.78 times higher in COL2A1 compared with COL11A1 Stickler syndrome (95% confidence interval: 1.30-2.43, P < 0.001). The certainty of evidence was moderate.<h4>Conclusion</h4>Our findings indicate a higher risk of retinal detachment in COL2A1 compared with COL11A1 Stickler syndrome, which may aid clinicians in determining individualized management plans for patients with Stickler syndrome. However, due to reporting biases inherent to the case series and case reports from which we obtained data, the overall certainty of evidence was rated as moderate, and our analysis was limited to providing relative risk of retinal detachment, not absolute risk.<h4>Financial disclosure(s)</h4>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article."],"journal":["Ophthalmology. Retina"],"pubmed_title":["Relative Risk of Retinal Detachment in COL2A1 Compared with COL11A1 Stickler Syndrome: An Individual Patient Data Meta-Analysis."],"pmcid":["PMC12695437"],"funding_grant_id":["YDZX2022008","NEI K08 EY034549","EY014800","UM1TR004409","UM1 TR004409","81873697","P30 EY014800","UL1TR002538","K08 EY034549","81530030","ZR2023MH186","UL1 TR002538"],"pubmed_authors":["MacLachlan AG","Liu X","Kraker JA","Rivera-Flores S","Johnson TJ","Kwun CY","Stoddard GJ","Baugh BT","Carpenter CM","Hwang ES","Requejo Figueroa GA"],"additional_accession":[]},"is_claimable":false,"name":"Relative Risk of Retinal Detachment in COL2A1 Compared with COL11A1 Stickler Syndrome: An Individual Patient Data Meta-Analysis.","description":"<h4>Topic</h4>To compare the relative risk of retinal detachment between patients with COL2A1 and COL11A1 Stickler syndrome.<h4>Clinical relevance</h4>It is unclear whether the rate of retinal detachment differs between COL2A1 and COL11A1 Stickler syndrome. Previous studies included too few patients to detect a difference between genotypes.<h4>Methods</h4>Individual patient data meta-analysis of cohort studies, case-control studies, cross-sectional studies, case series, and case reports across the MEDLINE, Embase, Scopus, Web of Science Core Collection, and Web of Science Preprint Citation Index databases from 1991 to 2025. Articles providing eye examination results in subjects with genetically confirmed COL2A1 or COL11A1 Stickler syndrome were included. From the included articles, individual patient data on affected gene, age at last follow-up, and presence or absence of retinal detachment were extracted. Patients who had prophylactic retinopexy were excluded. A mixed effects logistic regression adjusted for clustering by article and family was used to determine the relative risk of retinal detachment. A risk of bias was evaluated using the JBI Critical Appraisal Checklist for Case Series. The study was prospectively registered with the International Prospective Register of Systematic Reviews (CRD42023428144). The overall certainty of evidence was evaluated with Grading of Recommendations, Assessment, Development, and Evaluation.<h4>Results</h4>Of the 1420 articles screened, 179 were eligible for inclusion, and 141 provided individual patient data for a total of 673 patients from 430 families. Retinal detachment was present in 229 of 491 (47%) patients with COL2A1 Stickler syndrome and 51 of 182 (28%) patients with COL11A1 Stickler syndrome. The relative risk of retinal detachment was 1.78 times higher in COL2A1 compared with COL11A1 Stickler syndrome (95% confidence interval: 1.30-2.43, P < 0.001). The certainty of evidence was moderate.<h4>Conclusion</h4>Our findings indicate a higher risk of retinal detachment in COL2A1 compared with COL11A1 Stickler syndrome, which may aid clinicians in determining individualized management plans for patients with Stickler syndrome. However, due to reporting biases inherent to the case series and case reports from which we obtained data, the overall certainty of evidence was rated as moderate, and our analysis was limited to providing relative risk of retinal detachment, not absolute risk.<h4>Financial disclosure(s)</h4>Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Feb","modification":"2026-06-16T03:11:42.526Z","creation":"2026-06-16T03:07:07.442Z"},"accession":"S-EPMC12695437","cross_references":{"pubmed":["40825394"],"doi":["10.1016/j.oret.2025.08.008"]}}