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

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%