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Article

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.

BMC medical genetics - 14 Apr 2016

Souzeau Emmanuelle, Burdon Kathryn P, Ridge Bronwyn, Dubowsky Andrew, Ruddle Jonathan B, Craig Jamie E

Abstract excerpt

BACKGROUND: Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8-36% of cases, and display an autosomal dominant inheritance with high penetrance. Molecular diagnosis is important for early identification as therapies are effective in minimizing vision loss and MYOC variants can be associated to severe glaucoma. MYOC...

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Identifiers

PMID: 27080696
DOI: 10.1186/s12881-016-0291-5
PMCID: PMC4831102

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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