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Article

Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.

Human genetics - 1 Oct 2004

Aldred Micheala A, Baumber Laura, Hill Alison, Schwalbe Edward C, Goh Kai, Karwatowski Wojciech, Trembath Richard C

Abstract excerpt

Primary open angle glaucoma (POAG) affects 1% of people over age 40. Early detection and treatment can prevent blindness, but the disease is often asymptomatic until a late stage. Positive family history is an important risk factor and previous studies indicate that approximately 5% of POAG results from mutations in the myocilin ( MYOC) gene, raising the possibility of identifying individuals genetically...

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Source

Identifiers

PMID: 15338275
DOI: 10.1007/s00439-004-1171-1

Genes

MYOC

Variants

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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Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.PMID 15338275Read ↗

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