[Adult Refsum disease. A retinal dystrophy with therapeutic options].
Adult Refsum disease is one of the few forms of tapetoretinal degenerations accessible for therapy. The disease is characterized by an elevated plasma phytanic acid level and high concentrations of phytanic acid in a variety tissues. Beside tapetoretinal degeneration, additional symptoms are chronic polyneuropathy, cerebellar ataxia, sensorineural hearing loss, anosmia, ichthyosis, skeletal malformations, and cardiac abnormalities. A diet low in phytanic acid leads to an amelioration of polyneuropathy and ataxia and slows or even stops the other manifestations. This beneficial effect of dietary precautions requires the need to get hold of as much patients as possible but better all of them. The ophthalmologist plays a crucial role to this end because of the early manifestation of the tapetoretinal degeneration. A delay of 11 years between the appearance of first symptoms and the diagnosis of Refsum disease, as reported in the literature, is not acceptable.
Augenklinik Campus Virchow-Klinikum, Charité, Berlin. klaus.ruether@charite.de
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D000328:Adult; D004035:Diet Therapy / Q000379:methods*; D006801:Humans; D010831:Phytanic Acid / Q000097:blood*; D017410:Practice Guidelines as Topic; D010818:Practice Patterns, Physicians'; D011379:Prognosis; D012035:Refsum Disease / Q000175:diagnosis / Q000628:therapy*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy*; D016896:Treatment Outcome
D010831:Phytanic Acid