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Article

CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype.

Investigative ophthalmology & visual science - 1 May 2004

Ferrini Walter, Schorderet Daniel F, Othenin-Girard Philippe, Uffer Sylvie, Héon Elise, Munier Francis L

Abstract excerpt

PURPOSE: To identify the genetic defect leading to the congenital nuclear cataract affecting a large five-generation Swiss family. METHODS: Family history and clinical data were recorded. The phenotype was documented by both slit lamp and Scheimpflug photography. One cortical lens was evaluated by electron microscopy after cataract extraction. Lenticular phenotyping and genotyping were performed independently...

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Source

Identifiers

PMID: 15111599
DOI: 10.1167/iovs.03-0760

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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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