TGFBI相关颗粒状角膜营养不良的研究进展  

Advances in research of TGFBI-related granular corneal dystrophy

作　　者：李豪亮 梁舒[1] Li Haoliang;Liang Shu(Department of Ophthalmology,Affiliated Hospital of Nantong University,Nantong 226001,Jiangsu Province,China)

机构地区：[1]南通大学附属医院眼科,江苏南通226001

出　　处：《中华临床医师杂志（电子版）》2020年第11期931-936,共6页Chinese Journal of Clinicians(Electronic Edition)

基　　金：江苏省卫健委科研项目(H2019083)。

摘　　要：颗粒状角膜营养不良(GCD)是一组常染色体显性遗传病,属于角膜营养不良中较为常见的一种。研究证实,TGFBI基因突变会导致这一种疾病。TGFBI基因上不同位点的突变又会导致不同类型的GCD。本文结合国内外相关文献,从本病的致病基因、分型及临床表现、发病机制、治疗、展望等方面对TGFBI相关性GCD作较为简要的综述。Granular corneal dystrophy(GCD)is a group of autosomal dominant genetic diseases and belongs to a more common category of corneal dystrophy.Studies have confirmed that mutations in the TGFBI gene can cause GCD.Mutations at different sites in the TGFBI gene can lead to different types of GCD.By reviewing the relevant literature,we summarize TGFBI-related GCD with regard to its pathogenic genes,typing and clinical manifestations,pathogenesis,and treatment.

关 键 词：TGFBI基因 颗粒状角膜营养不良 基因突变 

分 类 号：R772.2[医药卫生—眼科]