title: Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
abstract: Adult Refsum disease is characterized by an elevated plasma phytanic acid level and high concentrations of phytanic acid in a variety of tissues. Besides tapetoretinal degeneration, additional symptoms are anosmia, skeletal malformations, chronic polyneuropathy, cerebellar ataxia, sensorineural hearing loss, ichthyosis, and cardiac abnormalities. A diet low in phytanic acid ameliorates polyneuropathy and ataxia and slows or even stops the other manifestations. In order to be able to apply dietary therapy, as many patients as possible (even better if all of them are) have to be identified at an early stage. The ophthalmologist plays a crucial role in achieving this goal because of the early manifestation of the tapetoretinal degeneration.
authors.affiliation: Charité-Eye Hospital, Campus Virchow-Klinikum, Berlin, Germany. klaus.ruether@charite.de
authors.forename: Klaus
authors.initials: K
authors.lastname: Rüether
authors.forename: Eleanor
authors.initials: E
authors.lastname: Baldwin
authors.forename: Minne
authors.initials: M
authors.lastname: Casteels
authors.forename: Michael D
authors.initials: MD
authors.lastname: Feher
authors.forename: Morten
authors.initials: M
authors.lastname: Horn
authors.forename: Susan
authors.initials: S
authors.lastname: Kuranoff
authors.forename: Bart P
authors.initials: BP
authors.lastname: Leroy
authors.forename: Ronald J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Anthony S
authors.initials: AS
authors.lastname: Wierzbicki
mesh_terms: D000328:Adult; D006801:Humans; D010831:Phytanic Acid / Q000097:blood; D012035:Refsum Disease / Q000175:diagnosis / Q000628:therapy; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000209:etiology / Q000628:therapy
chemical_list: D010831:Phytanic Acid