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

Created on 27 Jul 2026

Authors

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

Published in

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery. Jul 27, 2026. Epub Jul 27, 2026.

Abstract

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

PMID:
42507208
Bibliographic data and abstract were imported from PubMed on 27 Jul 2026.

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