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Introduction <p>Retinal dysfunction associated with <i>CACNA2D4</i> gene defects is a rare disorder of photoreceptor to bipolar cell signaling. We report two affected siblings presenting a surprising disparity of retinal involvement.</p> Materials and methods <p>Patients underwent complete ocular examination, multimodal fundus imaging, and full-field electroretinography (ffERG). Genetic testing was performed by a targeted Next Generation Sequencing panel.</p> Results <p>Two siblings presented a reduced visual acuity and light sensitivity. ffERG was specific for <i>CACNA2D4</i>-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-adapted stimulus. Both patients were homozygous for the variant c.2406C &gt; A, p.(Tyr802*) in <i>CACNA2D4.</i> During 17 years of follow-up, vision remained stable in patient 1, with no evidence of retinal degeneration.</p> Conclusion <p>Intrafamily clinical and electrophysiological expression of <i>CACNA2D4-</i>associated retinal dysfunction can be variable.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月29日

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

摘要

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-adapted stimulus. Both patients were homozygous for the variant c.2406C > A, p.(Tyr802*) in CACNA2D4. During 17 years of follow-up, vision remained stable in patient 1, with no evidence of retinal degeneration.

Conclusion

Intrafamily clinical and electrophysiological expression of CACNA2D4-associated retinal dysfunction can be variable.