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Article

Exploring the histopathological signature of repeat-mediated Fuchs endothelial corneal dystrophy.

Acta ophthalmologica - 1 May 2026

Kladny Anne-Marie S, Bhattacharyya Nihar, Abreu Costa Marcos, Tuft Stephen J, Thaung Caroline, Davidson Alice E

Abstract excerpt

PURPOSE: To determine the histological differences between Fuchs endothelial corneal dystrophy (FECD) cases with and without the most common genetic risk factor, expansion of a CTG repeat (CTG18.1) within the TCF4 gene. METHODS: Formalin-fixed paraffin-embedded corneal tissues were compared retrospectively, and CTG18.1 status was determined from blood-derived gDNA. Cases were defined as expansion-positive (Exp+)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41084978
DOI: 10.1111/aos.70014
PMCID: PMC13058678

Genes

TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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