- Stickler syndrome, caused by mutations in collagen genes, affects 1 in 8000 newborns and can lead to serious complications like retinal detachment and vision loss.
- Genetic testing can confirm the diagnosis of Stickler syndrome and identify at-risk relatives, but does not determine the optimal timing for prophylactic retinal treatment.
- A study presented at the ASRS 2024 Annual Meeting by Dr. Franco Recchia found that 93% of patients with retinal detachment and suspected Stickler syndrome had pathogenic variants in COL2A1 or COL11A1 genes.
- Variants in COL2A1 gene may lead to an earlier onset and more severe detachment of the disease.
- To better understand Stickler syndrome, researchers are extending genetic testing to family pedigrees and collaborating with other centers to create a consortium.
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Ophthalmology