The heterogeneity of Fuchs endothelial corneal dystrophy^†

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.