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Ophthalmologica. 1978;176(2):61-8.

Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease).

Abstract

The retina of a 9-month-old boy afflicted with biochemically proven type II glycogenosis contained abundant lysosomal glycogen. This was present in almost every cell type and occasionally associated with lipofuscin in choroidal macrophages. Lysosomal glycogen was absent from melanocytes and pigment epithelial cells. No degeneration of any cell layer was noted. The ubiquitous accretion of lysosomal glycogen resembles the widespread distribution of lipopigments in canine neural ceroid lipofuscinosis, another lysosomal disorder.

PMID:
273184
[PubMed - indexed for MEDLINE]
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