Genetic testing is valuable for confirming Stickler syndrome diagnosis and identifying at-risk relatives but does not determine the optimal timing for prophylactic retinal treatment. Stickler syndrome is caused by mutations in collagen genes, leading to various symptoms including retinal detachment. Preventive treatments like prophylactic retinopexy reduce the risk of vision loss. A study presented at the ASRS 2024 Annual Meeting found pathogenic variants in collagen genes in 93% of retinal detachments patients with suspected Stickler syndrome. However, several questions about treatment timing and effects of different gene variants remain unanswered. More research is needed to improve understanding and treatment of Stickler syndrome.
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Retinal Detachment Still Sticky Issue for Stickler Syndrome
