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Article

Intrafamilial variability of phenotype in CACNA2D4-associated retinal dysfunction: more or less.

Documenta ophthalmologica. Advances in ophthalmology - 1 Dec 2025

Smirnov Vasily, Dhaenens Claire-Marie, Canel Vincent, Defoort-Dhellemmes Sabine

Abstract excerpt

INTRODUCTION: Retinal dysfunction associated with CACNA2D4 gene defects is a rare disorder of photoreceptor to bipolar cell signaling. We report two affected siblings presenting a surprising disparity of retinal involvement. MATERIALS AND METHODS: Patients underwent complete ocular examination, multimodal fundus imaging, and full-field electroretinography (ffERG). Genetic testing was performed by a targeted Next...

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Identifiers

PMID: 40883544
DOI: 10.1007/s10633-025-10047-w
PMCID: PMC12568804

Genes

CACNA2D4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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