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Article

Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations.

Journal of glaucoma - 1 Jan 2000

Morales-Fernandez Laura, Martinez-de-la-Casa Jose M, Garcia-Bella Javier, Mendez Carmen, Saenz-Frances Federico, Garcia Maite, Escribano Julio, Garcia-Feijoo Julian

Abstract excerpt

BACKGROUND: Primary congenital glaucoma (PCG) is a rare disease. In around a third of Spanish patients, the disease is attributed to mutations in the CYP1B1 gene inherited in an autosomal recessive manner. Such mutations are the main known genetic cause of PCG. CASE REPORT: We describe the case o...

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Share to Cytochrome P-450 CYP1B1
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Identifiers

PMID: 25836661
DOI: 10.1097/IJG.0000000000000067

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25836661-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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