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Article

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

Molecular vision - 1 Jan 2011

Vincent Ajoy, Wright Tom, Day Megan A, Westall Carol A, Héon Elise

Abstract excerpt

PURPOSE: To report, for the first time, that X-linked incomplete congenital stationary night blindness (CSNB2A) and Åland island eye disease (AIED) phenotypes coexist in a molecularly confirmed pedigree and to present novel phenotypic characteristics of calcium channel alpha-1F subunit gene (CACNA1F)-related disease. METHODS: Two affected subjects (the proband and his maternal grandfather) and an unaffected...

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Source

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Identifiers

PMID: 22194652
PMCID: PMC3244487

Genes

ERG
NYX

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.PMID 22194652Read ↗

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