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Article

genotype-phenotype correlation in lattice corneal dystrophy: added diagnostic value of high-resolution OCT.

Scientific reports - 10 Jun 2026

Walasz Katarzyna, Wróblewska-Czajka Ewa, Wylęgała Adam, Bolek Bartłomiej, Dugiełło Bogdan, Kijonka Magdalena, Nowińska Anna, Wylęgała Edward

Abstract excerpt

INTRODUCTION: Lattice corneal dystrophy (LCD) is a progressive genetic disorder involving stromal amyloid accumulation. While molecular genetics is the diagnostic gold standard, its accessibility is often limited. This study evaluates high-resolution anterior segment optical coherence tomography (HR-OCT) for LCD characterization and surgical planning. e analysed 30 patients with confirmed TGFBI mutations (R124C,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

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Source

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Identifiers

PMID: 42270684
DOI: 10.1038/s41598-026-54481-5
PMCID: PMC13500647

Genes

TGFBI

Variants

Provenance

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

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