[关键词]
[摘要]
圆锥角膜(KC)是一种以角膜扩张、中央区角膜基质变薄、呈圆锥状突起为特征的角膜病变，常导致近视、不规则散光、轻度或重度视力下降。圆锥角膜的确切发病机制尚不清楚，双胞胎研究和家系研究等多种方法证实圆锥角膜的发生与遗传因素密切相关。圆锥角膜患者的一级亲属主要包括患者父母、同胞和子女。患者一级亲属的临床研究及分子遗传学研究对于遗传性疾病的家族聚集性分析和多基因遗传病的遗传分析等至关重要。本文就圆锥角膜患者一级亲属的临床研究和遗传学研究现状进行综述，以期深入了解圆锥角膜的一级亲属人群临床表现和遗传特点，为研究圆锥角膜发生中遗传因素和环境因素的作用及其相互关系提供新的思路。
[Key word]
[Abstract]
Keratoconus(KC)is a progressive disease characterized by gradual corneal thinning and ectasia, resulting in irregular astigmatism, myopia, and mild to severe visual impairment. Although the pathogenesis of KC is still unclear, twin studies and family-based studies have identified that the occurrence of KC is closely related to genetic factors. First-degree relatives of KC patients including their parents, siblings and offspring are very important for the family aggregation analysis and polygenic analysis of diseases. This review summarized the current situation of clinical and genetic research about first-degree relatives of KC patients, hoping to deepen the understanding of clinical manifestations and genetic characteristics of first-degree relatives of KC, and to provide new ideas for exploring the role of genetic and environmental factors in the pathogenesis of KC.
[中图分类号]
[基金项目]
国家自然科学基金青年科学基金项目(No.81200664); 山东省眼科学重点实验室开放课题自主项目(No.2018-04); 郑州大学青年教师(自然科学)基础研究培育基金(No.JC202051049); 河南省立眼科医院基础研究重点专项(No.20JCZD003); 河南省省部共建重点项目(No.SBGJ202002028); 河南省中青年卫生健康科技创新杰出青年人才培养项目(No.YXKC2020023)
