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Article

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma.

Molecular vision - 1 Jan 2015

Souzeau Emmanuelle, Hayes Melanie, Ruddle Jonathan B, Elder James E, Staffieri Sandra E, Kearns Lisa S, Mackey David A, Zhou Tiger, Ridge Bronwyn, Burdon Kathryn P, Dubowsky Andrew, Craig Jamie E

Abstract excerpt

PURPOSE: To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New Zealand Registry of Advanced Glaucoma. METHODS: In total, 50 PCG cases either heterozygous for disease-causing variants or with no CYP1B1 sequence variants were included in the study. CYP1B1 CNV...

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Identifiers

PMID: 25750510
PMCID: PMC4333725

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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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