Histochemistry of the Retina in Tay-Sachs Disease

The pathologic features of Tay-Sachs disease have been described by numerous investigators.¹All are agreed that the significant abnormality in the eye is a distention of the ganglion cells about the fovea and, with rare and inexplicable exception,²an atrophy of the optic nerve. Especially valuable from the histologic point of view have been the studies on eyes fixed within a matter of minutes after death.²,³The swollen appearance of the ganglion cells in eyes subjected to routine dehydration suggested early that the abnormal substance was nucleoproteid,⁴myelin,³or fat, but Marchi stains for fat were negative.³Subsequently, however, the substance was found to be sudanophilic²,⁵⁻⁷and presumably identical with the partially characterized substances found in the ganglion cells of the brain with this disease.⁸⁻¹² Despite the number of well-documented studies with use of standard histologic methods, the retina of this disease