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

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.