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Article

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

Investigative ophthalmology & visual science - 1 Jan 2010

Pasutto Francesca, Chavarria-Soley Gabriela, Mardin Christian Y, Michels-Rautenstrauss Karin, Ingelman-Sundberg Magnus, Fernández-Martínez Lorena, Weber Bernhard H F, Rautenstrauss Bernd, Reis André

Abstract excerpt

PURPOSE: Although primary congenital glaucoma (PCG)-associated CYP1B1 mutations in the heterozygous state have been evaluated for association with primary open-angle glaucoma (POAG) in several small studies, their contribution to the occurrence of POAG is still controversial. The present study was conducted to determine whether heterozygous functionally characterized CYP1B1 mutations are associated with the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19643970
DOI: 10.1167/iovs.09-3880

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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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