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September 1988

Increased Levels of Ceramide in the Retina of a Patient With Farber's Disease

Arch Ophthalmol. 1988;106(9):1163. doi:10.1001/archopht.1988.01060140323008

To the Editor.  —Farber's disease (disseminated lipogranulomatosis) is an autosomal recessive inherited lysosomal-storage disease. The accumulation of ceramide, the N-acyl fatty acid derivative of sphingosine, is characteristic of Farber's disease. In nine of 27 patients described in the literature, a deficiency of ceramidase, a lysosomal enzyme that catalyzes the hydrolysis of the amide linkage between the sphingosine and fatty acid moieties, has been proven.1 Recently we described the light and electron microscopic findings in the eyes of a 35-month-old girl with Farber's disease.2 Herein we report that the retina of this patient contained increased levels of ceramide.

Materials and Methods.  —High-pressure liquid chromatography was used to resolve lipids in 4% formaldehyde-fixed retinal tissue (Figure). Perbenzoylated control retinal lipids and retinal lipids from the patient with Farber's disease (0.1 mg each) were separated on a 5-μm silica gel column. Elution was carried out with a linear gradient (0%

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