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

Saygı Uysal G., Özdoğan A., ATILGAN K. G., ÖZLÜGEDİK S., AYLI M. D.

European Archives of Oto-Rhino-Laryngology, 2026 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1007/s00405-026-10469-5
  • Dergi Adı: European Archives of Oto-Rhino-Laryngology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
  • Anahtar Kelimeler: Fabry disease, Oculomotor dysfunction, Saccadic latency, Vestibular function, Video head impulse test (vHIT)
  • Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

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.