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首页> 外文期刊>Ophthalmic genetics >Three cases of molecularly confirmed Knobloch syndrome
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Three cases of molecularly confirmed Knobloch syndrome

机译：三种分子证实Knobloch综合征

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Background: Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the COL18A1 gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for this condition. Patients with Knobloch syndrome have also extraocular problems as brain and kidney malformations. High genetic and phenotypic variation has been reported in the affected patients. Materials and Methods: Here we provide detailed clinical description of 3 individuals with Knobloch syndrome. Ocular examination and fundus imaging have been performed. Detailed information about systemic conditions has been provided. Results: Mutations in COL18A1 were identified in all three patients. Patient 1 had congenital hip dislocation and patient 2 had renal atrophy, cardiac insufficiency and difficult skin healing. Conclusions: With this report we add to the clinical and genetic knowledge of this rare condition.
机译：背景：Knobloch综合征（OMIM 267750）是一种由于COL18A1基因中的遗传缺陷而稀有的常染色体隐性障碍。 高近视性的三合会，枕骨缺损，葡萄干退化已被描述为这种情况的病例。 knobloch综合征患者也具有视为脑和肾脏畸形的视形问题。 在受影响的患者中报道了高遗传和表型变异。 材料和方法：在这里，我们提供3种具有Knobloch综合征的3个体的详细临床描述。 已经进行了眼科检查和眼底成像。 提供了有关系统状况的详细信息。 结果：在所有三个患者中鉴定了COL18A1中的突变。 患者1具有先天性髋关节脱位和患者2患有肾萎缩，心脏功能不全和难以肌肤愈合。 结论：通过本报告，我们增加了这种罕见条件的临床和遗传知识。

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