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Article

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.

Molecular vision - 1 Jan 2012

Young Thomas K, Souzeau Emmanuelle, Liu Lance, Kearns Lisa S, Burdon Kathryn P, Craig Jamie E, Ruddle Jonathan B

Abstract excerpt

PURPOSE: To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations. METHODS: Family members of the proband underwent comprehensive ocular clinical examination and DNA sequencing for MYOC mutations. RESULTS: A 34-year-old woman with marked ocular hypertension was found to carry...

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Source

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Identifiers

PMID: 23304066
PMCID: PMC3538040

Genes

MYOC

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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