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Optic Nerve in Globoid Leukodystrophy (Krabbe's Disease)Ultrastructural Changes
Seymour Brownstein, MD;
Kathleen Meagher-Villemure, MD;
Robert C. Polomeno, MD;
John M. Little, MD
Arch Ophthalmol. 1978;96(5):864-870.
Abstract
• 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 β-galactosidase and the accumulation in the optic nerve and brain of its substrates, galactocerebroside and psychosine.
Author Affiliations
From the Departments of Ophthalmology (Drs Brownstein, Polomeno, and Little) and Pathology (Drs Brownstein and Meagher-Villemure), McGill University, Montreal Children's Hospital and Royal Victoria Hospital, Montreal, Quebec.
Footnotes
Accepted for publication Sept 6, 1977.
Reprint requests to Department of Ophthalmology, Royal Victoria Hospital, 687 Pine Ave W, Montreal, Quebec, Canada H3A 1A1 (Dr Brownstein).
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