Electron Microscopy of Ocular Muscle in Type Ii Glycogenosis (Pompe's Disease)

Abstract

In 1928, von Gierke described a small group of young patients who showed mas­ sive deposition of glycogen in their liver and kidneys at autopsy. A few years later, Pompe reported the case of a child who died with glycogen deposits in many organs as well as in skeletal muscle. Subsequently, Cori, Hers, and others have identified the inherited enzyme deficiency responsible for these and other disorders of glycogen metabolism. Pompe's disease (type II glycogenosis) results from absence of the enzyme alpha 1-4 glucosidase (acid maltase). Abnormal depo­ sition of glycogen is found in cardiac and skeletal muscle, liver, kidney, thyroid, and spleen. Because of the wide distribution of abnormal glycogen deposits, Pompe's disease is also referred to as generalized glycogeno­ sis. The light and electron microscopic changes in Pompe's disease have been thor­ oughly studied in skeletal and cardiac muscle and in other organs. Cogan was the first to observe deposits of glycogen in the mural cells of the retinal vessels in patients with Pompe's disease. Toussaint described the light microscopic ocular changes in a fivemonth-old infant with type II glycogenosis. He found deposits of glycogen in retinal ganglion cells, in mural cells of the retinal vessels, and in the smooth and striated mus­ cle fibers of the eye. Their illustrations of the rectus muscle showed a complete disap-