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Article

A novel CYP1B1 mutation with congenital glaucoma and total aniridia.

Ophthalmic genetics - 1 Mar 2015

Alzuhairy Sultan, Abu-Amero Khaled K, Al-Shahwan Sami, Edward Deepak P

Abstract excerpt

PURPOSE: Primary congenital glaucoma is a common disorder in the Middle East mainly caused by mutations in the the CYP1Bl gene. We report a family with three siblings that presented with recalcitrant childhood glaucoma, aniridia in two siblings with a novel CYP1B1 gene mutation. MATERIALS AND METHODS: Review of pedigree, clinical history and clinical course of the family. Genetic testing in the affected family...

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Source

Identifiers

PMID: 24001018
DOI: 10.3109/13816810.2013.833635

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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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