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Related Experiment Video

Updated: May 1, 2026

Systematic Hearing Performance Evaluation Process for Adolescents with Cochlear Implantation at Early Ages
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Published on: March 24, 2023

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Refsum's disease and cochlear implantation.

Claudia Nogueira, Thomasina Meehan, Gerard O'Donoghue

    The Annals of Otology, Rhinology, and Laryngology
    |April 3, 2014
    PubMed
    Summary

    Bilateral cochlear implantation significantly improved hearing and sound localization in a patient with Refsum

    Area of Science:

    • Otolaryngology
    • Genetics
    • Neurology

    Background:

    • Refsum's disease is a rare genetic disorder causing progressive hearing and visual impairment.
    • Hearing loss in Refsum's disease can significantly impact quality of life.

    Purpose of the Study:

    • To present a case of bilateral cochlear implantation in a patient with Refsum's disease.
    • To evaluate the efficacy of cochlear implantation for hearing restoration in this condition.

    Main Methods:

    • A retrospective case review was conducted.
    • The study focused on a 59-year-old male patient with Refsum's disease.

    Main Results:

    • The patient experienced substantial improvements in audiometric measures post-implantation.

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  • Subjective reports indicated enhanced sound localization abilities.

    • Conclusions:

    • Bilateral cochlear implantation is a viable and effective strategy for improving hearing in individuals with Refsum's disease.
    • This intervention can lead to a better quality of life for affected patients.