Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.

doi:10.1007/s10633-025-10062-x

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Article

Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2026

Loo Shi Pei, Shipton Chloe, Hamilton Mark, Brown Andrew, Millar Eoghan, Malik Iqbal, Craig Madeleine, Hamilton Ruth

Abstract excerpt

PURPOSE: Incomplete congenital stationary night blindness (icCSNB) is a subtype of inherited, non-progressive retinal diseases. Most cases of icCSNB result from mutations in the X-linked gene CACNA1F. We describe the clinical findings of two male siblings diagnosed with icCSNB, both carrying a novel variant c.4008 + 5G > T in CACNA1F inherited from their mother. METHODS: We carried out a comprehensive ophthalmic...

Topics

Humans
Night Blindness
Male
Myopia
Electroretinography
Genetic Diseases, X-Linked
Tomography, Optical Coherence
Calcium Channels, L-Type
Eye Diseases, Hereditary
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Child, Preschool

Visual Acuity

Female

Siblings

Child

Source

Open in PubMed

Identifiers

PMID: 41201761
DOI: 10.1007/s10633-025-10062-x

Genes

CACNA1F

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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