Knobloch Syndrome (KS) is a rare autosomal recessive hereditary disease. Despite its clinical heterogeneity, it is characterized by vitreoretinal degeneration and high myopia, with or without occipital skull defects. It is caused by mutations in the COL18A1 gene, which codifies for collagen XVIII, present in retina and vascular endothelium. Since the first description of the disease by doctors Knobloch and Layer in 1972, over 100 cases and 20 pathogenic or likely pathogenic mutations have been reported. We present the case of a child born from a consanguineous couple in Chile with congenital high myopia and dysmorphisms without an occipital skull defect. Whole exome sequencing analysis revealed an inherited homozygous variant in COL18A1, c.4224_4225delinsC, p.Pro1411Leufs*35.

中文翻译：

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智利一名患者的诺氏综合症。

诺氏综合征（KS）是一种罕见的常染色体隐性遗传性疾病。尽管具有临床异质性，但其特征是玻璃体视网膜变性和高度近视，伴有或无枕骨缺损。它是由COL18A1基因突变引起的，该基因编码存在于视网膜和血管内皮中的XVIII胶原蛋白。自1972年Knobloch和Layer医师对这种疾病进行首次描述以来，已经报道了100多例病例和20种病原或可能的病原突变。我们介绍了一个由智利近亲夫妇出生的孩子的案例，该孩子患有先天性高度近视和同型畸形，没有枕骨缺损。全基因组测序分析显示，在被继承的纯合子变异COL18A1，c.4224_4225delinsC，p.Pro1411Leufs * 35。