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Article

CACNA1F-related synaptic dysfunction: challenges diagnosing congenital stationary night blindness presenting without night blindness.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - 1 Dec 2024

Dumitrescu Alina V, Pfeifer Wanda L, Arhens Monica, Andorf Jeaneen L, Drack Arlene V

Abstract excerpt

OBJECTIVE: To describe pediatric patients with CACNA1F-associated incomplete X-linked congenital stationary night blindness presenting without nyctalopia, and review the causes leading to diagnosis delay. DESIGN: Retrospective cohort. METHODS: This was set in a single institution between 2004 and 2019. There were12 patients. The intervention or observation procedures used were clinical course, visual acuity,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38159912
DOI: 10.1016/j.jcjo.2023.11.022

Genes

CACNA1F

Provenance

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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