Three cases of molecularly confirmed Knobloch syndrome
Three cases of molecularly confirmed Knobloch syndrome
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DOI：
10.1080/13816810.2020.1737948
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发表时间：
2020-03-18
影响因子：
1.2
通讯作者：
Cordonnier, Monique
中科院分区：
文献类型：
--
作者：
Balikova, Irina;Sanak, Nuri Serdal;Cordonnier, Monique
背景：Knobloch综合征（OMIM 267750）是一种罕见的常染色体隐性遗传病，由COL18A1基因的遗传缺陷引起。高度近视、枕部缺损、玻璃体视网膜变性的三重特征被描述为这种疾病的典型症状。诺布洛赫综合征患者也有眼外问题，如大脑和肾脏畸形。据报道，在受影响的患者中存在高遗传和表型变异。材料与方法：本文对3例Knobloch综合征患者进行了详细的临床描述。进行了眼部检查和眼底成像。提供了有关系统状况的详细信息。结果：在所有3例患者中均鉴定出COL18A1突变。患者1有先天性髋关节脱位，患者2有肾萎缩、心功能不全和皮肤愈合困难。结论：通过本报告，我们增加了这种罕见疾病的临床和遗传知识。
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.