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Hearing loss in adult Refsum's disease by D.-E. Bamiou; P.R.D. Spraggs; F.B. Gibberd; M.C. Sidey; L.M. Luxon is a Medicine article available to read on EtoBox.

What is Hearing loss in adult Refsum's disease about?

Refsum's disease is characterized by defective peroxisomal alpha oxidation of phytanic acid, with clinical features that include retinitis pigmentosa, polyneuropathy, anosmia and hearing loss. Although hearing loss in Refsum's disease is common, there are few detailed assessments of the site of the abnormality. We examined the audiometric findings in patients with biochemically diagnosed Refsum's disease in order to assess the site of origin of the hearing loss. We found hearing loss, ranging from mild, predominantly high frequency to moderate degree, in seven out of nine patients with biochemically diagnosed adult Refsum's disease. In addition, we found evidence to suggest subtle auditory nerve involvement in six out of the seven patients with hearing loss and in one out of the two patients with a normal pure tone audiogram, on the basis of the ABR test results. We conclude that patients with Refsum's disease who report hearing difficulties should have full audiometric investigations in order to provide appropriate audiological rehabilitation.

Who reads Hearing loss in adult Refsum's disease?

Author

D.-E. Bamiou; P.R.D. Spraggs; F.B. Gibberd; M.C. Sidey; L.M. Luxon

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Blackwell; Wiley; FASEB (ISSN 1749-4478)

Published

2003

Language

EN

Field

Medicine (Health Sciences)