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Article

Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family.

Investigative ophthalmology & visual science - 1 May 2004

Klintworth Gordon K, Bao Wenjun, Afshari Natalie A

Abstract excerpt

PURPOSE: To determine the genetic basis for lattice corneal dystrophy (LCD) in an extensively studied family. METHODS: Ten affected family members were examined clinically, and three individuals were studied with in vivo confocal microscopy and optical coherence tomography (OCT). Corneal tissues from eight affected family members were examined histopathologically. The status of the transforming growth factor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15111592
DOI: 10.1167/iovs.03-1228

Genes

TGFBI

Variants

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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