The Stickler syndromes are a group of connective tissue disorders characterised by congenital myopia, giant retinal tear and retinal detachment, cleft palate, hearing loss and premature arthropathy. Patients with Stickler syndrome are also susceptible to abnormalities of the crystalline lens. Since neither type II or type XI collagen (those typically affected in the vast majority of Stickler patients) are highly expressed in the lens, this observational cohort study explores potential alternative mechanisms to explain why patients frequently exhibit such unusual but characteristic types of cataract.

中文翻译：

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Stickler 综合征晶状体的病理生物学


斯蒂克勒综合征是一组结缔组织病，其特征是先天性近视、巨大视网膜撕裂和视网膜脱离、腭裂、听力损失和早发性关节病。Stickler 综合征患者也容易受到晶状体异常的影响。由于 II 型或 XI 型胶原蛋白（绝大多数 Stickler 患者通常受影响的胶原蛋白）在晶状体中均不高度表达，因此这项观察性队列研究探讨了潜在的替代机制来解释为什么患者经常表现出如此不寻常但具有特征性的白内障类型。