[Butterfly-shaped dystrophy of the macula with absent pre-beta-fraction of the electropherogram of the serum lipoproteins (author's transl)].
A case of butterfly-shaped dystrophy of the macula is described. Clinical and electrophysiological data are compared with those of 11 cases described in the literature. An aberrant electropherogram of the lipoproteins examined at two different laboratories was found to be present. The serum lipoproteins showed total lack of the pre-beta-fraction. Two children of the patient were examined, too. They showed minimal macular changes which however did not justify the diagnosis of butterfly-shaped dystrophy. Their pre-beta-lipoprotein fractions of the electropherogram were below the Finish standards. The proband is the first case of butterfly-shaped macular dystrophy described from Finland and therefore it was not possible to control the laboratory findings on other cases. The absence of the pre-beta-lipoprotein fraction might be an important feature of butterfly-shaped dystrophy of the macula.
D000293:Adolescent; D000328:Adult; D001796:Blood Protein Disorders / Q000150:complications* / Q000235:genetics; D001797:Blood Protein Electrophoresis; D002648:Child; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008079:Lipoproteins, VLDL / Q000097:blood*; D008266:Macula Lutea / Q000503:physiopathology; D008268:Macular Degeneration / Q000097:blood* / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D008297:Male
D008079:Lipoproteins, VLDL
Schmetterlingsförmige Dystrophie der Makula bei anomalem Serumlipoprotein.