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Article

Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.

Ophthalmic genetics - 1 Aug 2024

Ruiz Guijosa Alexandra, Fernández Laura Morales, Martínez de la Casa José María, Escribano Julio, García Feijoo Julián

Abstract excerpt

OBJECTIVE: To describe the inheritance pattern and clinical variability of primary congenital glaucoma (PCG) in a family with two affected siblings. MATERIALS AND METHODS: Two sisters diagnosed at birth with bilateral PCG, whose father had bilateral PCG and mother had bilateral microphthalmus, were subjected to a familial genetic study and ophthalmologic follow-up including intraocular pressure (IOP) measurement,...

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Identifiers

PMID: 38450436
DOI: 10.1080/13816810.2024.2324044

Genes

CYP1B1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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