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A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.

The British journal of ophthalmology - 1 Jul 2003

El-Ashry M F, Abd El-Aziz M M, Larkin D F P, Clarke B, Cree I A, Hardcastle A J, Bhattacharya S S, Ebenezer N D

Abstract excerpt

AIMS: To establish a clinical, histopathological, and genetic diagnosis in two unrelated British families with Avellino corneal dystrophy (ACD). METHODS: Genomic DNA was extracted from peripheral blood leucocytes of all members participating in the study. Exons 4 and 12 of the human transforming growth factor beta induced (BIGH3) gene were amplified by polymerase chain reaction. The mutation and polymorphism were...

Topics

Adult
Aged
Aged, 80 and over
Cornea
Corneal Dystrophies, Hereditary
Exons
Female
Heterozygote
Humans
Male
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Sequence Analysis

United Kingdom

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Open in PubMed Open full text

Identifiers

PMID: 12812879
DOI: 10.1136/bjo.87.7.839
PMCID: PMC1771747

Genes

ACD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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