White-colored vessels of Iris and Retina in an infant

Abstract

A 4-week-old boy presented to our clinic. On physical examination of the eye, the anterior segment showed milky-white colored vessels of the iris (Fig 1). On ophthalmoscopic examination, the retinal vessels showed the same milky-white color (Fig 2). A blood sample was milky and revealed severe lipemia (Fig 3, online at www.us.elsevierhealth.com/jpeds). Hyperglycemia was ruled out (glucose, 87 mg/dL [4.84 mmol/L]), serum cholesterol was elevated to 1520 mg/dL (39.2 mmol/L), and serum triglycerides to 31,240 mg/dL (356.1 mmol/L). Deficiency of apolipoprotein CII, a cofactor of lipoprotein lipase, was ruled out. No activity of lipoprotein lipase was found after release of the enzyme from the endothelium by heparin administration. Similar laboratory results were found in a cousin, suggesting a hereditary genetic defect.