Tay-Sachs Disease

Presenting Symptom: Blind OU; Gangliosidic accumulation in the retina. Pathology: Perifoveal opacity. In Tay-Sachs Disease, a ganglioside accumulates in ganglion cells of the retina and brain, causing blindness and death within the first few years of life. The gangliosidic accumulation in the retina causes a white opacity that is most dense centrally, corresponding to the greater density of ganglion cells about the fovea but sparing the fovea itself which is devoid of ganglion cells. This results in a central cherry-red spot. The patient was a 10-month old Jewish boy who developed normally for the first few months of life but then retrogressed so that at the time the photograph was taken, he was blind and no longer able to sit up. The fundus shows the perifoveal opacity, a central cherry-red spot, and pale disc. Disease/ Diagnosis: Tay-Sachs Disease