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Optic nerve in globoid leukodystrophy (Krabbe's disease). Ultrastructural changes.

Globoid leukodystrophy (Krabbe's disease) was diagnosed in an infant in whom a progressive neurological disorder and optic atrophy developed. At autopsy, ultrastructural examination of the optic nerves and cerebral white matter revealed characteristic tubular inclusions in globoid-epithelioid cells. Thinning of the nerve fiber and ganglion cell layers of the retina appeared to be due to retrograde degeneration of the optic nerve related to the abnormal metabolism of myelin. We discuss the pathogenesis of the clinical and pathological ocular findings, with regard to the inherited absence of the enzyme galactocerebroside beta-galactosidase and the accumulation in the optic nerve and brain of its substrates, galactocerebroside and psychosine.[1]


  1. Optic nerve in globoid leukodystrophy (Krabbe's disease). Ultrastructural changes. Brownstein, S., Meagher-Villemure, K., Polomeno, R.C., Little, J.M. Arch. Ophthalmol. (1978) [Pubmed]
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