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中华临床医师杂志(电子版) ›› 2020, Vol. 14 ›› Issue (11) : 931 -936. doi: 10.3877/cma.j.issn.1674-0785.2020.11.016

所属专题: 文献

综述

TGFBI相关颗粒状角膜营养不良的研究进展
李豪亮1, 梁舒1,()   
  1. 1. 226001 江苏南通,南通大学附属医院眼科
  • 收稿日期:2020-05-21 出版日期:2020-11-15
  • 通信作者: 梁舒
  • 基金资助:
    江苏省卫健委科研项目(H2019083)

Advances in research of TGFBI-related granular corneal dystrophy

Haoliang Li1, Shu Liang1,()   

  1. 1. Department of Ophthalmology, Affiliated Hospital of Nantong University, Nantong 226001, Jiangsu Province, China
  • Received:2020-05-21 Published:2020-11-15
  • Corresponding author: Shu Liang
引用本文:

李豪亮, 梁舒. TGFBI相关颗粒状角膜营养不良的研究进展[J/OL]. 中华临床医师杂志(电子版), 2020, 14(11): 931-936.

Haoliang Li, Shu Liang. Advances in research of TGFBI-related granular corneal dystrophy[J/OL]. Chinese Journal of Clinicians(Electronic Edition), 2020, 14(11): 931-936.

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.

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