The heterogeneity of Fuchs endothelial corneal dystrophy†

IF 5.4 2区医学 Q1 ONCOLOGY

The Journal of Pathology Pub Date : 2026-07-07 Epub Date: 2026-04-07 DOI:10.1002/path.70062

Sangita P Patel

引用次数: 0

Abstract

Late-onset Fuchs endothelial corneal dystrophy (FECD) is characterized by distinct extracellular matrix deposits (guttae) within the basement membrane (Descemet's membrane) of the corneal endothelium. In a recent study published in The Journal of Pathology, Vaitinadapoulé et al (2026) describe the diversity of guttae patterns in FECD through analysis of 500 Descemet's membrane specimens removed during surgery, with genotyping performed in one-fifth of patients for the commonly associated TCF4 trinucleotide repeat expansion. The diversity and clustering of guttae phenotypes in the total cohort and in those with and without TCF4 association have implications for commonly used diagnostic grading criteria for FECD, the development of therapeutics, and our understanding of disease development. Investigating and embracing this diversity holds promise for advancing our understanding of FECD. © 2026 The Pathological Society of Great Britain and Ireland.

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Fuchs角膜内皮营养不良的异质性。

迟发性Fuchs内皮性角膜营养不良（FECD）的特征是角膜内皮基底膜（Descemet膜）内存在明显的细胞外基质沉积（guttae）。最近发表在《病理学杂志》上的一项研究中，vaitinadapoul等人（2026）通过分析手术中切除的500个Descemet膜标本，描述了FECD中guttae模式的多样性，并对五分之一的患者进行了基因分型，以进行常见的TCF4三核苷酸重复扩增。在整个队列中以及与TCF4相关和不相关的人群中，肠菌表型的多样性和聚类对FECD常用的诊断分级标准、治疗方法的开发以及我们对疾病发展的理解具有重要意义。研究和接受这种多样性有望促进我们对FECD的理解。©2026英国和爱尔兰病理学会。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

The Journal of Pathology 医学-病理学

CiteScore

14.10

自引率

1.40%

发文量

144

审稿时长

3-8 weeks

期刊介绍： The Journal of Pathology aims to serve as a translational bridge between basic biomedical science and clinical medicine with particular emphasis on, but not restricted to, tissue based studies. The main interests of the Journal lie in publishing studies that further our understanding the pathophysiological and pathogenetic mechanisms of human disease. The Journal of Pathology welcomes investigative studies on human tissues, in vitro and in vivo experimental studies, and investigations based on animal models with a clear relevance to human disease, including transgenic systems. As well as original research papers, the Journal seeks to provide rapid publication in a variety of other formats, including editorials, review articles, commentaries and perspectives and other features, both contributed and solicited.