What characteristic finding is associated with Tay Sachs disease?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Tay Sachs disease is associated with a characteristic finding of a cherry red spot in the macula. This occurs due to the accumulation of GM2 gangliosides in the retina, which leads to the selective degeneration of retinal ganglion cells. In cases of Tay Sachs, the fovea remains unaffected, allowing the underlying choroidal circulation to be visible against the pale, degenerated retinal neurons, creating the classic cherry red spot appearance.

This finding is particularly significant in the diagnosis of Tay Sachs disease and is part of the neurological manifestations of the condition. As Tay Sachs progresses, other symptoms may include developmental delay, loss of motor skills, and neurological degeneration, but the cherry red spot is a key feature recognized in the examination of the retina.

In contrast, other conditions like retinal detachment, optic nerve atrophy, and macular degeneration do not present with this specific feature and are more associated with other pathophysiological processes. Macular degeneration could lead to central vision loss, but it doesn't cause the appearance of a cherry red spot. Likewise, optic nerve atrophy does not present with the characteristic examination finding of a cherry red spot in the macula.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy