Annals of Otology Rhinology & Laryngology · 2014 · 12 citations · 9 references
MedicineAudiologyOtolaryngologyClinical AudiologyCochlear ImplantsOtologyAudiologic EvaluationCochlear DisordersCochlear ImplantationHearing ImpairmentHearing LossSurgical ImplantationAudiometric AbnormalitiesSequential Bilateral Cochlear ImplantationSimultaneous Bilateral Cochlear Implantation
OBJECTIVES: The objective was to describe a case of bilateral cochlear implantation in a 59-year-old man with hearing and visual impairment due to Refsum's disease. METHOD: A retrospective case review was performed. RESULTS: After cochlear implantation, the patient demonstrated much improved audiometric performance and reported improved sound localization. CONCLUSIONS: Bilateral cochlear implantation is an important strategy in the improvement of hearing and quality of life in individuals with Refsum's disease.
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Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene
Gerbert A. Jansen, Rob Oftnan, Sacha Ferdinandusse et al. · Nature Genetics · 1997 · 306 citations