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Otolith function in Usher type II syndrome.

Ana Margarida Amorim1,2, Diliana Rebelo1, Ana Beatriz Ramada1

  • 1Otorhinolaringology Department, Coimbra Local Health Unit, EPE, Coimbra, Portugal.

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|August 16, 2024
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Summary

Otolith dysfunction is present in Usher syndrome type II (USH2), impacting balance and potentially vision. Vestibular evoked myogenic potentials (VEMPs) reveal abnormalities in USH2 patients, suggesting a need for their inclusion in clinical evaluations.

Keywords:
USH2Usher’s syndromecVempdizzinessoVempvestibular

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Area of Science:

  • Otolaryngology
  • Neuroscience
  • Genetics

Background:

  • Usher syndrome type II (USH2) is a genetic disorder causing hearing and vision loss, with previously assumed intact vestibular function.
  • Emerging evidence suggests otolith vestibular receptors may be involved in USH2 pathophysiology.

Purpose of the Study:

  • To evaluate the dynamic function of otolith vestibular receptors in individuals with Usher syndrome type II.
  • To correlate vestibular function test results with patient-reported outcomes for balance and dizziness.

Main Methods:

  • Twenty-two USH2 patients and age-matched controls underwent comprehensive vestibular testing, including cervical and ocular vestibular evoked myogenic potentials (c-VEMPs and o-VEMPs).
  • Vestibular test results were analyzed alongside scores from the Activities Balance Scale (ABC) and Dizziness Handicap Inventory (DHI).

Main Results:

  • Absence of c-VEMPs was noted in 15 USH2 patients compared to 4 controls (p=0.034).
  • Significant differences in o-VEMP N1 latencies, N1-P1 amplitudes, and asymmetry ratios were observed between USH2 patients and controls (p<0.010, p<0.003, p<0.014, respectively).
  • A strong correlation was found between o-VEMP amplitude and DHI scores in USH2 patients (p=0.003).

Conclusions:

  • The study indicates the presence of otolith dysfunction in Usher syndrome type II, independent of subjective dizziness.
  • Integrating vestibular evoked myogenic potential testing into the clinical assessment of USH2 patients can improve disease characterization and management.