Gene research progress of Fuchs endothelial corneal dystrophy

Authors:Gao Fengjie, Guan Huaijin, Ji Min

Corresponding author:Ji Min , Email:amyji1234@hotmail.com

Published:2026-08-10

DOI:10.3760/cma.j.cn115989-20241113-00309

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ABSTRACT 

Fuchs endothelial corneal dystrophy (FECD) is a bilateral inherited corneal disorder characterized by irreversible degeneration of the corneal endothelium. Clinically, it manifests as a progressive loss of corneal endothelial cells, stromal edema, and gradual deterioration of visual function. In advanced stages, corneal transplantation remains the mainstay treatment for restoring vision. However, the precise pathogenesis of FECD remains incompletely elucidated, and current therapeutic options are largely limited to corneal transplantation and symptomatic management. With the rapid development of high-throughput sequencing and molecular biological techniques, multiple genes closely associated with FECD have been identified. These genes can be categorized into direct pathogenic genes and indirect contributing genes. Direct pathogenic genes, such as COL8A2, directly contribute to disease advancement by altering protein structure and function. Additionally, mutations in indirect contributing genes, including TCF4, SLC4A11, and ZEB1, are thought to promote disease onset and progression by regulating RNA toxicity, oxidative stress response, cellular metabolism, and corneal endothelial cell function. This review systematically summarizes the research progress on both FECD-associated direct pathogenic genes and indirect contributing genes, with a detailed discussion of the molecular mechanisms involved. Furthermore, it highlights potential therapeutic targets and the latest treatment strategies, including gene therapy, antioxidant therapy, and drug screening approaches based on molecular mechanisms. These findings provide significant theoretical foundations and research directions for elucidating the molecular basis of FECD and facilitating the development of novel targeted therapies.

KEYWORDS：

Fuchs endothelial corneal dystrophy;Pathogenesis;Cornea;Gene;Research progress

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Authors Info & Affiliations 

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References click to collapse

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