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Article

Individual phenotypic variances in a family with Avellino corneal dystrophy.

BMC ophthalmology - 9 Jul 2013

Abazi Zihret, Magarasevic Lidija, Grubisa Ivana, Risovic Dusica

Abstract excerpt

BACKGROUND: Avellino corneal dystrophy (ACD) is an autosomal dominant disorder, characterized by the presence of deposits in the anterior stroma, and results from a specific mutation (R124H) in the transforming growth factor beta-induced gene (TGFBI). This report presents corneal dystrophy of the Bowman layer as a rare phenotypic appearance of ACD and a high intra-familial variability of phenotype in patients...

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Share to Anterior Eye Segment
Share to Corneal Dystrophies, Hereditary
Share to Epithelium, Corneal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Tomography, Optical Coherence

Source

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Identifiers

PMID: 23837658
DOI: 10.1186/1471-2415-13-30
PMCID: PMC3708762

Genes

ACD
TGFBI

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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