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Article

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

Journal of medical genetics - 1 Sept 2004

Melki R, Colomb E, Lefort N, Brézin A P, Garchon H-J

Abstract excerpt

INTRODUCTION: Primary open-angle glaucoma (POAG) is a leading cause of visual impairment worldwide and a complex genetic disorder that affects mostly adults. Mutations in the MYOCILIN (MYOC) and OPTINEURIN genes account for rare forms with a Mendelian inheritance and for <5% of all POAG cases. The CYP1B1 gene, a member of the cytochrome P450 gene family, is a major cause of primary congenital glaucoma (PCG), a...

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Source

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Identifiers

PMID: 15342693
DOI: 10.1136/jmg.2004.020024
PMCID: PMC1735887

Genes

MYOC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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