Retinal amacrine cell involvement in Tay-Sachs disease.

Ultrastructural study of the retina from a patient with Tay-Sachs disease disclosed that amacrine cells as well as ganglion cells were loaded with numerous membranous cytoplasmic bodies, suggesting an accumulation of GM2 ganglioside, whereas the horizontal cells, bipolar cells, and photoreceptor cells were intact. Chromatography of lipids from the retina showed a prominent spot of GM2 ganglioside. These facts suggest that lipid metabolism in amacrine cells may be different from that in other retinal cells.