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Article

CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.

Ophthalmology - 1 Sept 2011

Kelberman Daniel, Islam Lily, Jacques Thomas S, Russell-Eggitt Isabelle, Bitner-Glindzicz Maria, Khaw Peng T, Nischal Ken K, Sowden Jane C

Abstract excerpt

PURPOSE: To determine the prevalence of CYP1B1 mutations in a cohort of patients with congenital corneal opacification (CCO), infantile glaucoma, or both and to describe a developmental CCO associated with CYP1B1 mutation that may explain von Hippel's original description of an internal ulcer. DESIGN: Retrospective genotyping of a cohort of patients with infantile glaucoma and CCO. PARTICIPANTS: Thirty-three...

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Source

Identifiers

PMID: 21600657
DOI: 10.1016/j.ophtha.2011.01.044

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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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