Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Inka‐Tuulevi Vähämäki; Annamari T. Immonen; J T Ramo; Aino M. Jaakkola; Kari Krootila; Maria Kaukonen; FinnGen; Aarno Palotie; Hannes Lohi; T KIVELÄ; Joni A. Turunen

doi:10.1111/aos.70144

April 20, 2026Acta OphthalmologicaOpen Access

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

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Key Points

This research aims to identify genetic risk factors associated with Fuchs endothelial corneal dystrophy (FECD) in Finnish patients.
Identified TCF4 expansion as a significant risk factor for FECD.
Evaluated a nearby SNP as a surrogate for genotyping.
Analyzed genetic variants in patients with and without the expansion.
TCF4 (CTG)>50 expansion is a major risk factor for FECD in the population studied.
Not all patients with FECD exhibited the expansion, indicating additional genetic factors.
A variant in another associated gene was found in an isolated instance.

Implication

Genetic analysis uncovers risk factors for Fuchs endothelial corneal dystrophy in Finnish individuals, suggesting new avenues for understanding the disease.

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Cite This Study

Vähämäki et al. (2026) studied this question.

synapsesocial.com/papers/69e9b89b85696592c86ebcb9 https://doi.org/10.1111/aos.70144

View Full Paper

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Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Key Points

Implication

Discussion

Cite This Study

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Key Points

Implication

Discussion

Cite This Study

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