The Sphingolipidoses and the Eye

doi:10.1001/archopht.1968.03850040439013

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Vol. 79 No. 4, April 1968

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The Sphingolipidoses and the Eye

David G. Cogan, MD; Toichiro Kuwabara, MD

Arch Ophthalmol. 1968;79(4):437-452.

Abstract

The sphingolipidoses constitute a segment of the inborn errorsof metabolism in which glycolipids having a sphingosine baseaccumulate in the tissues. At the ultrastructural level thestored substance forms multimembranous inclusion bodies in lysosomes.

Those sphingolipidoses which have some ophthalmic manifestationsare: Farber's disease, Niemann-Pick disease, Tay-Sachs' disease,generalized gangliosidosis, Gaucher's disease, Krabbe's disease,Fabry's disease, and metachromatic leucodystrophy. The clinicalsigns and symptoms in the eye are widely variable and sometimessubtle. With the exception of Fabry's disease in which the ocularchanges include the cornea, lens, and blood vessels, the principalocular abnormalities are due to accumulation of glycolipid inthe retinal ganglion cells and to atrophy of the optic nerve.

Formula

Author Affiliations

Boston

From Howe Laboratory of Ophthalmology, Harvard University Medical School, Massachusetts Eye and Ear Infirmary, Boston.

Footnotes

Submitted for publication Sept 7, 1967.

The substance of this paper was presented as the DeSchweinitzLecture, Nov 16, 1967.

Reprint requests to 243 Charles St, Boston, Mass 02114 (Dr.Cogan).

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