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Cataract surgery in Knobloch syndrome: a case report

机译:白内障手术治疗诺氏综合征:一例报告

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Abstract: Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described.
机译:摘要:诺氏综合征是一种常染色体隐性遗传疾病,与早期发作的眼部异常和中枢神经系统畸形有关。眼部异常通常很严重,包括高度近视,玻璃体视网膜变性,视网膜脱离,黄斑异常和白内障。最常见的全身性变化是大脑中线畸形,心室扩张和枕叶脑膨出。认知延迟可能会发生。我们报告了一名患有诺氏综合症的儿童白内障病例。描述了白内障手术和随访。

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