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Article

TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease.

Progress in retinal and eye research - 1 Mar 2021

Fautsch Michael P, Wieben Eric D, Baratz Keith H, Bhattacharyya Nihar, Sadan Amanda N, Hafford-Tear Nathaniel J, Tuft Stephen J, Davidson Alice E

Abstract excerpt

Fuchs endothelial corneal dystrophy (FECD) is a common cause for heritable visual loss in the elderly. Since the first description of an association between FECD and common polymorphisms situated within the transcription factor 4 (TCF4) gene, genetic and molecular studies have implicated an intronic CTG trinucleotide repeat (CTG18.1) expansion as a causal variant in the majority of FECD patients. To date, several...

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Share to Corneal surgery and disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Genetic Predisposition to Disease

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Share to Polymorphism, Genetic

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Identifiers

PMID: 32735996
DOI: 10.1016/j.preteyeres.2020.100883
PMCID: PMC7988464

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease.PMID 32735996Read ↗

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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseSemantic proximity Read ↗

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.Semantic proximity Read ↗

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