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Optic Nerve in Globoid Leukodystrophy (Krabbe's Disease)
- Source :
- Archives of Ophthalmology. 96:864
- Publication Year :
- 1978
- Publisher :
- American Medical Association (AMA), 1978.
-
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 beta-galactosidase and the accumulation in the optic nerve and brain of its substrates, galactocerebroside and psychosine.
- Subjects :
- Cytoplasm
genetic structures
Nerve fiber
Myelin
Lactose Intolerance
Atrophy
Cerebrosides
medicine
Humans
Krabbe's disease
Retina
business.industry
Psychosine
Brain
Infant
Optic Nerve
Anatomy
beta-Galactosidase
medicine.disease
eye diseases
Leukodystrophy, Globoid Cell
Ganglion
Microscopy, Electron
Optic Atrophy
Ophthalmology
medicine.anatomical_structure
Optic nerve
Female
Galactocerebroside
sense organs
business
Subjects
Details
- ISSN :
- 00039950
- Volume :
- 96
- Database :
- OpenAIRE
- Journal :
- Archives of Ophthalmology
- Accession number :
- edsair.doi.dedup.....44373a38d4ce8136805617630f5453e4