Question:
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:
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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
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The Correct Option is D
Solution and Explanation
Step 1: A cherry-red spot is produced when lipid-laden ganglion cells make the perifoveal retina look pale and opaque, while the thin fovea (which has no ganglion cells) still shows the normal red choroidal colour underneath, giving a red dot in a pale background.
Step 2: Tay-Sachs disease (GM2 gangliosidosis) is the classic cause of a cherry-red spot, so Option C shows it.
Step 3: GM1 gangliosidosis also accumulates ganglioside in retinal ganglion cells and produces a cherry-red spot, so Option B shows it.
Step 4: Niemann-Pick disease (especially type A) stores sphingomyelin in retinal ganglion cells and produces a cherry-red spot, so Option A shows it.
Step 5: Gaucher's disease is a glucocerebrosidase deficiency that mainly affects the liver, spleen, bone marrow, and bones; it does NOT classically produce a macular cherry-red spot. So it is the exception.
Note on the key: The recalled key was printed as "None," which is medically incorrect because Gaucher's disease is the clear exception. The corrected answer is Option D (Gaucher's disease).
Hence the answer is Option D (Gaucher's disease).
Step 2: Tay-Sachs disease (GM2 gangliosidosis) is the classic cause of a cherry-red spot, so Option C shows it.
Step 3: GM1 gangliosidosis also accumulates ganglioside in retinal ganglion cells and produces a cherry-red spot, so Option B shows it.
Step 4: Niemann-Pick disease (especially type A) stores sphingomyelin in retinal ganglion cells and produces a cherry-red spot, so Option A shows it.
Step 5: Gaucher's disease is a glucocerebrosidase deficiency that mainly affects the liver, spleen, bone marrow, and bones; it does NOT classically produce a macular cherry-red spot. So it is the exception.
Note on the key: The recalled key was printed as "None," which is medically incorrect because Gaucher's disease is the clear exception. The corrected answer is Option D (Gaucher's disease).
Hence the answer is Option D (Gaucher's disease).
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