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Relative Risk of Retinal Detachment in COL2A1 Compared with COL11A1 Stickler Syndrome: An Individual Patient Data
Cameron M Carpenter1, Aileen G MacLachlan1, Caitlyn Y Kwun1
1Department of Ophthalmology & Visual Sciences, University of Utah, John A Moran Eye Center, Salt Lake City, Utah.
Ophthalmology. Retina
|August 18, 2025
Summary
Patients with COL2A1 Stickler syndrome have a 1.78 times higher risk of retinal detachment compared to those with COL11A1 Stickler syndrome. This finding aids in personalized management for Stickler syndrome patients.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Stickler syndrome is a group of inherited connective tissue disorders.
- Retinal detachment is a known complication, but the comparative risk between different genetic subtypes is not well-established.
- Previous studies lacked sufficient power to differentiate risks between COL2A1 and COL11A1 genotypes.
Purpose of the Study:
- To compare the relative risk of retinal detachment in patients with COL2A1 Stickler syndrome versus COL11A1 Stickler syndrome.
- To provide data that can inform individualized management strategies for patients with Stickler syndrome.
Main Methods:
- An individual patient data meta-analysis was conducted, including cohort studies, case-control studies, and case reports.
- Data were extracted from MEDLINE, Embase, Scopus, and Web of Science databases (1991-2025).
- Mixed effects logistic regression was used to calculate the relative risk, adjusting for clustering by article and family.
Main Results:
- Data from 673 patients across 430 families were analyzed.
- The prevalence of retinal detachment was 47% in COL2A1 and 28% in COL11A1 Stickler syndrome.
- The relative risk of retinal detachment was 1.78 times higher in COL2A1 compared to COL11A1 Stickler syndrome (95% CI: 1.30-2.43, p < 0.001).
Conclusions:
- COL2A1 Stickler syndrome is associated with a significantly higher relative risk of retinal detachment than COL11A1 Stickler syndrome.
- These findings can assist clinicians in developing tailored management plans.
- The certainty of evidence was moderate due to potential reporting biases in the source data.
