PDF(Pubmed)
Abstract：
Stickler syndrome is a genetic disorder characterized by collagen abnormalities leading to various ocular manifestations, such as retinal detachment. We present two cases of siblings clinically diagnosed with Stickler syndrome who exhibited retinal detachment. Case 1, a seven-year-old girl, and case 2, her 14-year-old brother, both displayed severe myopia and other clinical signs consistent with Stickler syndrome. Despite their ages, neither case showed evidence of posterior precortical vitreous pocket (PPVP) on imaging or during surgical intervention. These findings suggest a potential relationship between collagen abnormalities and PPVP dysplasia in Stickler syndrome.
摘要：
Stickler综合征是一种遗传性疾病，其特征是胶原蛋白异常导致各种眼部表现，如视网膜脱离。我们介绍了两例临床诊断为Stickler综合征并表现出视网膜脱离的兄弟姐妹。案例1一个七岁的女孩,第二个案例是她14岁的弟弟,两者均表现出严重近视和其他与Stickler综合征一致的临床体征。尽管他们的年龄,在影像学检查或手术干预期间，均未发现有皮质前玻璃体囊后（PPVP）的证据。这些发现表明Stickler综合征中胶原蛋白异常与PPVP发育不良之间存在潜在关系。
