国际眼科纵览

• 综述 • 上一篇    下一篇

基因在圆锥角膜发病中的作用

魏丽平 曹燕娜 贺贵云   

  1. 湖南师范大学附属第一医院 湖南省人民医院眼科,长沙 410005
  • 收稿日期:2019-06-24 出版日期:2019-12-22 发布日期:2019-12-26
  • 通讯作者: 贺贵云,Email:1747768543@qq.com

The effect of genes in the pathogenesis of keratoconus

Wei Liping,Cao Yanna,He Guiyun   

  1. Department of Ophthalmology, The First Affiliated Hospital of Hunan Normal University,Hunan Provincial People's Hospital,Changsha 410005,China
  • Received:2019-06-24 Online:2019-12-22 Published:2019-12-26
  • Contact: He Guiyun,Email:1747768543@qq.com

摘要:

圆锥角膜是最常见的角膜扩张症,其特征是角膜呈锥形凸出和变薄,导致近视、不规则散光而损害视力。基因在圆锥角膜发病机制中起重要作用,胞质分裂供体9(dedicator of cytokinesis 9,DOCK9)、锌指E盒结合同源框1(zinc finger E-binding homeobox 1,ZEB1)、锌指蛋白469(zinc finger protein 469,ZNF469)等基因的突变,均可致病。但大多数基因的致病性仍然有限,其发病机制可能涉及多种因素。除基因外,炎症、细胞凋亡等因素也参与圆锥角膜的发生和发展。(国际眼科纵览,2019, 43: 396-400)

Abstract:

Keratoconus (KC) is the most common corneal dilatation, which is characterized by a convex and thinning cornea that leads to myopia, irregular astigmatism, and eventually vision loss. Many studies have reported the role of genes in the pathogenesis of keratoconus. For example, mutations in genes such as dedicator of cytokinesis 9(DOCK9), zinc finger E-binding homeobox 1(ZEB1), and zinc finger protein 469(ZNF469) can all cause the disease. But the pathogenicity of most genes is still limited. The pathogenesis may involve multiple mechanisms. In addition to genes, inflammation and apoptosis seem to be involved in the development of keratoconus.(Int Rev Ophthalmol, 2019, 43: 396-400)