Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.

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Article

Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.

Investigative ophthalmology & visual science - 1 Sept 1998

Okada M, Yamamoto S, Inoue Y, Watanabe H, Maeda N, Shimomura Y, Ishii Y, Tano Y

Abstract excerpt

PURPOSE: To determine the mutational status of the beta ig-h3 gene in five patients from four Japanese families affected with an unusual, severe form of corneal dystrophy. In these five cases, the corneas were remarkable for confluent round opacities in the superficial stromal layer. The beta ig-...

Topics

Adult
Chromosomes, Human, Pair 5
Consanguinity
Cornea
Corneal Dystrophies, Hereditary
DNA
DNA Primers
Extracellular Matrix Proteins
Eye Proteins
Female
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Neoplasm Proteins

Pedigree

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 9727418

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9727418-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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