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.
✦ The floor
Discussion
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Audiologists and vestibular specialists seeing Fabry disease patients should be alert to oculomotor dysfunction and selective vestibular deficits, supporting a comprehensive neuro-otological work-up in this population.
Characterizing the neuro-otological profile of Fabry disease helps establish disease-specific screening protocols and may serve as a biomarker for disease progression or treatment response monitoring.
- 01Fabry disease patients showed prominent oculomotor dysfunction and selective vestibular involvement on neuro-otological testing.
- 02Fabry disease is a lysosomal storage disorder (a condition where cells cannot break down certain substances) caused by deficiency of the enzyme alpha-galactosidase A.
- 03Selective vestibular involvement suggests the disease does not uniformly affect all balance pathways.
- 04Findings may justify routine neuro-otological screening in Fabry disease management.
- 05The study was characterization-focused; no therapeutic intervention was tested.
Fabry disease patients exhibit prominent oculomotor dysfunction on neuro-otological examination.
studysupportedVestibular involvement in Fabry disease is selective rather than global.
studypartially supported- PMID
- 42507208
- DOI
- 10.1007/s00405-026-10469-5.
- Journal
- European Archives of Oto-Rhino-Laryngology
- Publication type
- research_article
- Evidence level
- 3
- Population
- Patients with confirmed Fabry disease undergoing neuro-otological evaluation
- Intervention
- Comprehensive neuro-otological assessment including oculomotor and vestibular testing
Primary outcomes
Prevalence and pattern of oculomotor dysfunction; Pattern of vestibular involvement across different test modalities