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Purpose <p>Fabry disease (FD) is a multisystem disorder with recognized cochleovestibular involvement; however, detailed characterization of oculomotor function remains limited. This study aimed to evaluate auditory, vestibular, and oculomotor functions in FD.</p> Methods <p>Twenty-four patients with FD underwent audiological evaluation, video head impulse testing (vHIT), and oculomotor assessment, including saccadic latency, velocity, and accuracy.</p> Results <p>Most patients (83.3%) had normal audiometric thresholds despite frequent otological symptoms (54.2%). Prolonged saccadic latency was the most prominent abnormality. vHIT findings indicated largely preserved semicircular canal function, with abnormalities most frequent in the lateral canal (33.3%), followed by the posterior (16.7%) and anterior canals (8.3%), suggesting a selective vestibular pattern. No significant associations were identified between neuro-otological findings and clinical or genetic variables (all <i>p</i> &gt; 0.05).</p> Conclusion <p>Oculomotor dysfunction, particularly prolonged saccadic latency, appears to be a sensitive marker of early central involvement in FD. Vestibular findings demonstrate a selective pattern, while auditory function is often subclinical. Comprehensive neuro-otological assessment, including oculomotor evaluation, may improve clinical evaluation in FD.</p>

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Neuro-otological findings in fabry disease: prominent oculomotor dysfunction and selective vestibular involvement

  • 期刊论文

  • 发表日期：

    2026年7月27日

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  • Gökçe Saygı Uysal,
  • Aykut Özdoğan,
  • Kadir Gökhan Atilgan,
  • Samet Özlügedi̇k,
  • Mehmet Deniz Aylı

摘要

Purpose

Fabry disease (FD) is a multisystem disorder with recognized cochleovestibular involvement; however, detailed characterization of oculomotor function remains limited. This study aimed to evaluate auditory, vestibular, and oculomotor functions in FD.

Methods

Twenty-four patients with FD underwent audiological evaluation, video head impulse testing (vHIT), and oculomotor assessment, including saccadic latency, velocity, and accuracy.

Results

Most patients (83.3%) had normal audiometric thresholds despite frequent otological symptoms (54.2%). Prolonged saccadic latency was the most prominent abnormality. vHIT findings indicated largely preserved semicircular canal function, with abnormalities most frequent in the lateral canal (33.3%), followed by the posterior (16.7%) and anterior canals (8.3%), suggesting a selective vestibular pattern. No significant associations were identified between neuro-otological findings and clinical or genetic variables (all p > 0.05).

Conclusion

Oculomotor dysfunction, particularly prolonged saccadic latency, appears to be a sensitive marker of early central involvement in FD. Vestibular findings demonstrate a selective pattern, while auditory function is often subclinical. Comprehensive neuro-otological assessment, including oculomotor evaluation, may improve clinical evaluation in FD.