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American Journal of Ophthalmology 1978-Jun

The ultrastructure of the retina in adult metachromatic leukodystrophy.

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H H Goebel
K Shimokawa
A Argyrakis
H Pilz

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A 46-year-old woman afflicted with biochemically proven metachromatic leukodystrophy had only mild optic atrophy shortly before her death. Repeated earlier ophthalmoscopic examinations had not revealed any retinal abnormalities. Light microscopy of the retina showed strong acid phosphatase activity in both enlarged ganglionic cells and pigment epithelial cells. Demyelination of both optic nerves was not noted. Ultrastructurally, membranous lysosomal residual bodies were confined to ganglionic cells. We found lipofuscin material in pigment epithelial cells, but also within metachromatic leukodystrophy-specific residual bodies of ganglionic cells. The presence of lipofuscin represents the "wear-and-tear" phenomenon, possibly enhanced by the metachromatic leukodystrophy.

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