The pathologic features of Tay-Sachs disease have been described by numerous investigators.1 All 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,2 an 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.2,3 The swollen appearance of the ganglion cells in eyes subjected to routine dehydration suggested early that the abnormal substance was nucleoproteid,4 myelin,3 or fat, but Marchi stains for fat were negative.3 Subsequently, however, the substance was found to be sudanophilic2,5-7 and 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
COGAN DG, KUWABARA T. Histochemistry of the Retina in Tay-Sachs Disease. AMA Arch Ophthalmol. 1959;61(3):414–423. doi:10.1001/archopht.1959.00940090416011
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