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Article

Variant lattice corneal dystrophy associated with compound heterozygous mutations in the TGFBI gene.

The British journal of ophthalmology - 1 Apr 2017

Ann Lydia Bai-Tsin, Abbouda Alessandro, Frausto Ricardo F, Huseynli Samira, Gupta Kishan, Alió Jorge L, Aldave Anthony J

Abstract excerpt

BACKGROUND/AIMS: To report the clinical, histopathological and genetic features of a variant of lattice corneal dystrophy (LCD) associated with two pathogenic mutations in the transforming growth factor-B-induced (TGFBI) gene. METHODS: Clinical characterisation was performed by slit lamp examination and in vivo confocal microscopic imaging (IVCM). Histopathological characterisation was performed with light...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27402970
DOI: 10.1136/bjophthalmol-2015-307602

Genes

TGFBI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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