Eye Clinic, University Medical Centre, Ljubljana, Slovenia.
Cornea. 2010 Feb;29(2):172-6. doi: 10.1097/ICO.0b013e3181aebf7a.
Keratoconus (KC) is a bilateral, noninflammatory, and progressive corneal ectasia that occurs mostly as a sporadic disorder, but it has long been recognized that a significant minority of patients also exhibit a family history. In recent years, several candidate genes, including VSX1 and SOD1, have been proposed and some disease-causing mutations have been identified.
To investigate the role of the 2 genes in 113 Slovenian patients with sporadic and familial KC, the complete coding region with corresponding intronic sequences was analyzed. The same regions of both genes were also checked in 100 healthy blood donors. We also checked the relation of 627+23G>A polymorphism in the VSX1 gene with the hereditary form of the disease.
No disease-causing mutations were identified in either gene. We did discover a significant association of 627+23G>A polymorphism distribution (VSX1) with unrelated patients diagnosed with the hereditary form of KC.
The absence of pathogenic mutations in our large number of unrelated patients with KC indicates that other genetic factors are involved in the development of this disorder.
圆锥角膜（KC）是一种双侧、非炎症性、进行性的角膜扩张，主要表现为散发性疾病，但长期以来人们一直认识到，少数患者也存在家族史。近年来，已经提出了几个候选基因，包括 VSX1 和 SOD1，并且已经确定了一些致病突变。
为了研究这 2 个基因在 113 名斯洛文尼亚散发性和家族性 KC 患者中的作用，我们分析了完整的编码区及其相应的内含子序列。我们还在 100 名健康献血者中检查了这 2 个基因的相同区域。我们还检查了 VSX1 基因的 627+23G>A 多态性与遗传性疾病之间的关系。
在这两个基因中均未发现致病突变。我们确实发现，与遗传性 KC 相关的无关患者中，627+23G>A 多态性（VSX1）的分布存在显著相关性。
我们对大量无关联的 KC 患者进行的研究中未发现致病突变，这表明其他遗传因素也参与了该疾病的发生。
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