Tecnologico de Monterrey, School of Medicine and Health Sciences, Monterrey, Mexico.
Int Ophthalmol. 2024 Feb 12;44(1):61. doi: 10.1007/s10792-024-02994-1.
The present review will summarize FECD-associated genes and pathophysiology, diagnosis, current therapeutic approaches, and future treatment perspectives.
Literature review.
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.
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.
本综述将总结 FECD 相关基因及发病机制、诊断、当前治疗方法和未来治疗前景。
文献回顾。
Fuchs 角膜内皮营养不良(FECD)是最常见的双侧角膜营养不良,占美国所有角膜移植手术的三分之一。FECD 是由遗传和非遗传因素共同引起的,有两种类型:早发性 FECD,影响早期人群,通常更为严重;晚发性 FECD 更为常见,通常在 40 岁左右出现。FECD 的特征性表现包括角膜内皮细胞进行性丧失和 Descemet 膜上形成局灶性赘生物(guttae)。这些病理生理变化导致进行性内皮功能障碍,在后期导致视力下降和失明。本综述将总结 FECD 相关基因及发病机制、诊断、当前治疗方法和未来治疗前景。
随着对 FECD 相关基因的特征描述和理解,以及对角膜内皮再生治疗的持续研究,我们有望在未来看到对该疾病的管理和护理有更显著的改善。