Question:medium
Cherry-red spot at the macula is seen in all of the following, except:
Cherry-red spot at the macula is seen in all of the following, except:
Show Hint
Which lysosomal storage disorder loads macrophages of spleen and marrow, not retinal ganglion cells?
Updated On: Jun 24, 2026
- Niemann-Pick disease
- GM1 gangliosidosis
- Tay-Sachs disease
- Gaucher's disease
Show Solution
The Correct Option is D
Solution and Explanation
The cherry-red spot is a retinal sign that appears when storage material piles up inside the retinal ganglion cells around the fovea. Those swollen, lipid-filled cells turn the surrounding retina milky and pale, but the very centre of the macula has almost no ganglion cells, so its thin floor lets the red colour of the choroid show through. The contrast creates a red dot ringed by a whitish halo. This sign is the hallmark of the sphingolipidoses that load ganglion cells with lipid. Tay-Sachs, a GM2 gangliosidosis, is the textbook example. GM1 gangliosidosis does the same by storing GM1 ganglioside in those cells. Niemann-Pick disease, particularly the acute neuronopathic type A, fills ganglion cells with sphingomyelin and likewise shows the cherry-red spot. The outlier here is Gaucher's disease. Although it is a lysosomal storage disorder, the deficient enzyme is glucocerebrosidase, and the glucocerebroside collects mainly in macrophages of the spleen, liver, marrow, and bone, sparing the retinal ganglion cells; so it does not produce a classic macular cherry-red spot. The printed key of "None" is wrong; the correct exception is Gaucher's disease. \[\boxed{\text{Gaucher's disease}}\]
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