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Article

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Apr 2011

Khan Arif O, Al-Abdi Lama, Mohamed Jawahir Y, Aldahmesh Mohammed A, Alkuraya Fowzan S

Abstract excerpt

We describe siblings with familial primary juvenile glaucoma from a consanguineous Saudi Arabian family. The phenotype segregated with homozygous p.G61E CYP1B1 mutations while MYOC mutation was not detected, illustrating that mutations in CYP1B1 rather than mutation in MYOC can underlie familial primary juvenile glaucoma in certain populations.

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Source

Identifiers

PMID: 21596299
DOI: 10.1016/j.jaapos.2011.01.156

Genes

MYOC

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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