关键词: Corneal dystrophy Eye Fuchs’ endothelial corneal dystrophy Genetics Rho kinase inhibitors

Mesh : Humans Fuchs' Endothelial Dystrophy / diagnosis genetics therapy Endothelial Cells Endothelium, Corneal Corneal Transplantation Blindness

来  源:   DOI:10.1007/s10792-024-02994-1

Abstract:
OBJECTIVE: The present review will summarize FECD-associated genes and pathophysiology, diagnosis, current  therapeutic approaches, and future treatment perspectives.
METHODS: Literature review.
RESULTS: Fuchs\' endothelial corneal dystrophy (FECD) is the most common bilateral corneal dystrophy and accounts for one-third of all corneal transplants performed in the US. FECD is caused by a combination of genetic and non-heritable factors, and there are two types: early-onset FECD, which affects individuals from an early age and is usually more severe, and late-onset FECD, which is more common and typically manifests around the age of 40. The hallmark findings of FECD include progressive loss of corneal endothelial cells and the formation of focal excrescences (guttae) on the Descemet membrane. These pathophysiological changes result in progressive endothelial dysfunction, leading to a decrease in visual acuity and blindness in later stages. The present review will summarize FECD-associated genes and pathophysiology, diagnosis, current therapeutic approaches, and future treatment perspectives.
CONCLUSIONS: With the characterization and understanding of FECD-related genes and ongoing research into regenerative therapies for corneal endothelium, we can hope to see more significant improvements in the future in the management and care of the disease.
摘要:
目的:本综述将总结FECD相关基因和病理生理学,诊断,目前的治疗方法,以及未来的治疗前景。
方法:文献综述。
结果:Fuchs'内皮角膜营养不良(FECD)是最常见的双侧角膜营养不良,占美国所有角膜移植的三分之一。FECD是由遗传因素和非遗传因素共同引起的,有两种类型:早发性FECD,从早期开始影响个体,通常更严重,和迟发性FECD,这更常见,通常表现在40岁左右。FECD的标志发现包括角膜内皮细胞的进行性丧失和在Descemet膜上形成局灶性增生(guttae)。这些病理生理变化导致进行性内皮功能障碍,导致后期视力下降和失明。本文将对FECD相关基因及其病理生理学进行综述,诊断,目前的治疗方法,以及未来的治疗前景。
结论:随着对FECD相关基因的表征和理解以及对角膜内皮再生疗法的持续研究,我们希望将来在疾病的管理和护理方面看到更多的重大改进。
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