What retinal finding is associated with Tay-Sachs disease?

Tay-Sachs disease is a genetic disorder caused by a deficiency of the enzyme hexosaminidase A, leading to the accumulation of GM2 gangliosides, particularly in neuronal tissues. One of the classic ocular findings associated with Tay-Sachs disease is the presence of a cherry-red spot on the macula. This specific retinal finding occurs due to the contrast between the pale, ganglion cell atrophy resulting from the accumulation of gangliosides in the retina and the normal foveal zone which appears red due to the underlying choroidal vasculature.

The cherry-red spot is indicative of a lesion that affects the retinal ganglion cells, which are markedly reduced in density due to the disease process. This visual finding is a key diagnostic marker for Tay-Sachs and is often used to differentiate it from other conditions that cause similar neurological symptoms.

Other potential retinal conditions, such as optic neuritis, cataract formation, and retinal detachment, are not characteristic of Tay-Sachs disease and do not present with the classic cherry-red spot finding. Therefore, the presence of a cherry-red spot on the macula serves as an important visual clue for clinicians in recognizing this specific metabolic disorder.