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K S Pokorny, R Ritch, A H Friedman, R J Desnick; Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease).. Invest. Ophthalmol. Vis. Sci. 1982;22(1):25-31.
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Type II glycogenosis is an autosomal recessive storage disease characterized by absence of the enzyme acid alpha-1,4-glucosidase. The eye of a 16 week fetus, aborted after diagnosis by amniocentesis, was studied by light and electron microscopy. Extensive deposits of lysosomal and cytoplasmic glycogen were present in virtually all ocular tissues examined, with the notable exception of pigment epithelia (iris and retina). The massive glycogen deposits present in this, the youngest case thus far examined histologically, emphasize the involvement of the fetus from its earliest stages and the importance of prenatal diagnosis.
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