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

ABSTRACT:

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 Generation Sequencing panel.

Results

Two siblings presented a reduced visual acuity and light sensitivity. ffERG was specific for CACNA2D4-related retinal dysfunction, but amplitudes of responses were different in the two patients. Additionally, an x-wave to a dim red flash was well preserved, and there was a reduced b/a ratio to a high intensity (30cd/m2) dark-

SUBMITTER: Smirnov V 

PROVIDER: S-EPMC12568804 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature