Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy

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, 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. (Surv Ophtholmol 55:531-538, 2010. (C) 2010 Elsevier Inc All rights reserved)