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  • Title: Abetalipoproteinemia. Report of an unusual patient.
    Author: Judisch GF, Rhead WJ, Miller DK.
    Journal: Ophthalmologica; 1984; 189(1-2):73-9. PubMed ID: 6472810.
    Abstract:
    Abetalipoproteinemia (Bassen-Kornzweig syndrome, acanthocytosis) was diagnosed at age 13 months in a black male. At age 13 months, the electroretinogram was nonrecordable and a pigmentary retinopathy was obvious with ophthalmoscopy. Following dietary modification and vitamin supplementation, the scotopic electroretinogram improved to about 30% of normal.
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