March 1968

Retinal Changes in Glycogen Storage Disease Type 1

Author Affiliations

Los Angeles
From the departments of pediatrics and ophthalmology, Childrens Hospital of Los Angeles and University of Southern California School of Medicine.

Am J Dis Child. 1968;115(3):328-331. doi:10.1001/archpedi.1968.02100010330005

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.

Materials  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.

Results  Ophthalmoscopic examination of cases 2, 3,

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