The sphingolipidoses constitute a segment of the inborn errors of metabolism in which glycolipids having a sphingosine base accumulate in the tissues. At the ultrastructural level the stored substance forms multimembranous inclusion bodies in lysosomes.
Those sphingolipidoses which have some ophthalmic manifestations are: Farber's disease, Niemann-Pick disease, Tay-Sachs' disease, generalized gangliosidosis, Gaucher's disease, Krabbe's disease, Fabry's disease, and metachromatic leucodystrophy. The clinical signs and symptoms in the eye are widely variable and sometimes subtle. With the exception of Fabry's disease in which the ocular changes include the cornea, lens, and blood vessels, the principal ocular abnormalities are due to accumulation of glycolipid in the retinal ganglion cells and to atrophy of the optic nerve.