GLYCOGEN storage disease (GSD), Type 1 or Von Gierke's disease is a hereditary disease associated with very low to absent activity of the enzyme glucose-6-phosphatase in the liver, kidney, and small intestine,1 and the accumulation of glycogen in these tissues. Clinically, the disease is characterized by short stature, massive hepatomegaly, hypoglycemia, lactic acidosis, and hyperlipidemia. This report presents retinal changes not previously described in patients with GSD, Type 1.
Five patients (case 1, 20-year-old man; case 2, 17-year-old girl; case 3, 14-year-old girl; case 4, 13-year-old boy; and case 5, 12-year-old boy) with clinical findings of GSD, Type 1 who met the following biochemical criteria were studied: no increase in the blood glucose concentration in response to glucagon (0.1 cc/kg) or galactose (1.75 mg/kg); elevated serum lactic acid levels and/or absence of liver glucose-6-phosphatase. Case 1 and case 3 are siblings.
Ophthalmoscopic examination of cases 2, 3,