Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy

作     者：Xuerui Liu Tao Zheng Chuchu Zhao Yi Zhang Hanruo Liu Liyuan Wang Ping Liu 

作者机构：Department of OphthalmologyThe First Affiliated Hospital of Harbin Medical UniversityHarbinHeilongjiangChina The Beijing Institute of OphthalmologyBeijing Tongren HospitalCapital Medical UniversityBeijingChina 

出 版 物：《Eye and Vision》 (眼视光学杂志（英文）)

年 卷 期：2021年第8卷第1期

页      面：232-243页

核心收录：

学科分类：1002[医学-临床医学] 100212[医学-眼科学] 10[医学] 

基　　金：supported by the Heilongjiang Postdoctoral Fund(Grant No.LBH-Z18185) the Heilongjiang Provincial Colleges and Universities Basic Scientific Research Fund(Grant No.2018-KYYWF-0484). 

主　　题：Fuchs endothelial corneal dystrophy Genetic mutations Mechanisms Therapy 

摘      要：Background:Fuchs endothelial corneal dystrophy is a hereditary disease and the most frequent cause of corneal transplantation in the worldwide.Its main clinical signs are an accelerated decrease in the number of endothelial cells,thickening of Descemet’s membrane and formation of guttae in the extracellular matrix.The cornea’s ability to maintain stromal dehydration is impaired,causing painful epithelial bullae and loss of vision at the point when the amount of corneal endothelial cells cannot be compensated.At present,apart from corneal transplantation,there is no other effective treatment that prevents blindness.Main text:In this review,we first summarized the mutations of COL8A2,TCF4,TCF8,SLC4A11 and AGBL1 genes in Fuchs endothelial corneal dystrophy.The molecular mechanisms associated with Fuchs endothelial corneal dystrophy,such as endoplasmic reticulum stress and unfolded protein response pathway,oxidative stress,mitochondrial dysregulation pathway,apoptosis pathway,mitophagy,epithelial-mesenchymal transition pathway,RNA toxicity and repeat-associated non-ATG translation,and other pathogenesis,were then explored.Finally,we discussed several potential treatments related to the pathogenesis of Fuchs endothelial corneal dystrophy,which may be the focus of future research.Conclusions:The pathogenesis of Fuchs endothelial corneal dystrophy is very complicated.Currently,corneal transplantation is an important method in the treatment of Fuchs endothelial corneal dystrophy.It is necessary to continuously explore the pathogenesis of Fuchs endothelial corneal dystrophy and establish the scientific foundations for the development of next-generation corneal therapeutics.