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Article

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.

JAMA ophthalmology - 1 Jul 2015

Souzeau Emmanuelle, Hayes Melanie, Zhou Tiger, Siggs Owen M, Ridge Bronwyn, Awadalla Mona S, Smith James E H, Ruddle Jonathan B, Elder James E, Mackey David A, Hewitt Alex W, Healey Paul R, Goldberg Ivan, Morgan William H, Landers John, Dubowsky Andrew, Burdon Kathryn P, Craig Jamie E

Abstract excerpt

IMPORTANCE: Juvenile open-angle glaucoma (JOAG) is a severe neurodegenerative eye disorder in which most of the genetic contribution remains unexplained. OBJECTIVE: To assess the prevalence of pathogenic CYP1B1 sequence variants in an Australian cohort of patients with JOAG and severe visual field loss. DESIGN, SETTING, AND PARTICIPANTS: For this cohort study, we recruited 160 patients with JOAG classified as...

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Identifiers

PMID: 25950505
DOI: 10.1001/jamaophthalmol.2015.0980

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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