Rare diseases · Sign or symptom
Cherry red spot of the macula
HP:0010729
What it means
Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula.
Rare diseases that can present with this16
Common30–79%
10- Chronic neurovisceral acid sphingomyelinase deficiency
- Chronic visceral acid sphingomyelinase deficiency
- Congenital sialidosis type 2
- Farber disease
- GM1 gangliosidosis type 1
- GM2 gangliosidosis, AB variant
- Infantile neurovisceral acid sphingomyelinase deficiency
- Juvenile sialidosis type 2
- Sandhoff disease, infantile form
- Tay-Sachs disease
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Macular cherry red spot
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.