Abetalipoproteinemia. Report of an unusual patient.
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.
D000012:Abetalipoproteinemia / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004596:Electroretinography; D005451:Fluorescein Angiography; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012174:Retinitis Pigmentosa / Q000175:diagnosis*; D014792:Visual Acuity