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Article

The Genetic and Epigenetic Architecture of Keratoconus: Emerging Pathways and Clinical Implications.

Genes - 6 Jan 2026

Cappellani Francesco, Capobianco Matteo, Visalli Federico, Mazzotta Cosimo, D'Esposito Fabiana, Tognetto Daniele, Gagliano Caterina, Zeppieri Marco

Abstract excerpt

BACKGROUND: Keratoconus (KC) is a progressive corneal ectasia and a leading cause of corneal transplantation in young adults. Once regarded as a biomechanical disorder, KC is now recognized as a complex disease driven by genetic predisposition, epigenetic modulation, and environmental triggers. Advances in genomics and transcriptomics have begun to elucidate the molecular mechanisms underlying corneal thinning...

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Source

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Identifiers

PMID: 41595486
DOI: 10.3390/genes17010066
PMCID: PMC12841094

Genes

COL5A1
FOXO1
HGF
LOX
WNT10A
ZNF469

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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