基因在圆锥角膜发病机制中的影响  

Role of genes in the pathogenesis of keratoconus

作　　者：刘才毓 杨芳文 Liu Caiyu;Yang Fangwen(Guizhou Medical University,Guiyang 550000,Guizhou Province,China;Department of Ophthalmology,the Second Affiliated Hospital of Guizhou Medical University,Kaili 556000,Guizhou Province,China)

机构地区：[1]贵州医科大学,贵州省贵阳市550000 [2]贵州医科大学第二附属医院眼科,贵州省凯里市556000

出　　处：《国际眼科杂志》2024年第10期1588-1594,共7页International Eye Science

摘　　要：圆锥角膜(KC)是一种以局限性角膜圆锥样突起,伴有突起区角膜基质变薄为特征的疾病,常见于青春期前后,表现为双侧发病,是一种潜在的致盲性眼病。研究表明其发病与环境因素、炎症反应、免疫功能、力学刺激等相关,但目前对圆锥角膜的发生及进展机制尚无确切定论。以角膜重塑相关基因为代表的多种基因已被发现对圆锥角膜的发生发展具有一定影响,更多的研究仍在挖掘与圆锥角膜发病有关的基因靶点。文章就目前的研究进展综述与圆锥角膜发病机制相关的基因靶点及其影响,探索基因在圆锥角膜早期诊断及干预的应用价值,为今后圆锥角膜发病机制的研究提供新思路。Keratoconus(KC)is a disease characterized by limited corneal cone-like protrusions accompanied by thinning of the corneal stroma in the area of protrusion,which commonly occurs before and after puberty,manifests itself bilaterally,and is a potentially blinding ophthalmic disease.It is a potentially blinding eye disease.Studies have shown that its pathogenesis is related to environmental factors,inflammatory response,immune function,and mechanical stimulation,but the mechanism of the occurrence and progression of KC has not yet been conclusively determined.A variety of genes,represented by corneal remodeling-related genes,have been found to have some influence on the development of cone cornea.More studies are still digging into the genetic targets associated with the development of cone cornea.This article reviews the targets and influence of genes in the pathogenesis of cone cornea,to explore the application value of genes in the early diagnosis and intervention of cone cornea,and to provide new ideas for future research on the pathogenesis of cone cornea.

关 键 词：圆锥角膜(KC) 基因 基因突变 氨基酸 种族差异 

分 类 号：R772.2[医药卫生—眼科]