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Article

CYP1B1 Cytopathy: Uncommon Phenotype of a Homozygous CYP1B1 Deletion as Internal Corneal Ulcer of Von Hippel.

Cornea - 1 Oct 2017

Oliva-Biénzobas Valeria, Navas Alejandro, C Astiazarán Mirena, Chacón-Camacho Oscar Francisco, A Bermúdez-Magner Jose, Takane Mariana, Graue-Hernández Enrique, Zenteno Juan Carlos

Abstract excerpt

PURPOSE: To report a mutation of CYP1B1 in a newborn with a rare phenotype without the classic features of anterior segment dysgenesis or congenital glaucoma. METHODS: The newborn presented with diffuse corneal edema and bilaterally elevated intraocular pressure (IOP). Ophthalmological examination, ultrasound, and ultrasound biomicroscopy were performed; congenital infections were ruled out. Genetic analysis was...

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PMID: 28644236
DOI: 10.1097/ICO.0000000000001263

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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