title: [Refsum syndrome in a pair of monozygotic twins].
abstract: We report the case of a pair of twins with the ophthalmological and functional findings of Refsum syndrome. The twins were monozygotic twin brothers whose ophthalmological symptoms were noticed when they were in their forties. The diagnosis in the first brother led to a search for findings in the second. It was possible to attribute the non-specific subjective complaints to this as yet unknown syndrome. No causal therapy can be offered the patients. However, knowledge of the biochemical basis of the disease makes it possible to treat it by means of diet. In patients with retinopathia pigmentosa, an attempt should be made to identify Refsum syndrome if neurological symptoms are found in addition.
authors.affiliation: Kreiskrankenhaus Lüdenscheid.
authors.forename: S
authors.initials: S
authors.lastname: Kohnen
authors.forename: W
authors.initials: W
authors.lastname: Hammerstein
mesh_terms: D000328:Adult; D004200:Diseases in Twins / Q000235:genetics*; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D010833:Phytic Acid / Q000008:administration & dosage; D012035:Refsum Disease / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D014430:Twins, Monozygotic
chemical_list: D010833:Phytic Acid