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Article

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.

American journal of ophthalmology - 1 May 2003

Jacobi Felix Karl, Hamel Christian P, Arnaud Bernard, Blin Nikolaus, Broghammer Martina, Jacobi Philipp C, Apfelstedt-Sylla Eckart, Pusch Carsten M

Abstract excerpt

PURPOSE: To describe a French family with the incomplete type of X-linked congenital stationary night blindness (CSNB2) associated with a novel mutation in the retina-specific calcium channel alpha(1) subunit gene (CACNA1F). DESIGN: Interventional case report. METHODS: Two family members with a history of nonprogressive night blindness and subnormal visual acuity were clinically examined and the genotype...

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Source

Identifiers

PMID: 12719097
DOI: 10.1016/s0002-9394(02)02109-8

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ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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