Cherry red spot is seen in: September 2010 March 2013
## **Core Concept**
The "cherry red spot" is a medical sign that refers to a characteristic appearance in the macula of the retina, typically seen in certain conditions. It is named for its resemblance to a cherry pit. This sign is often associated with disorders that affect the retina or the nervous system.
## **Why the Correct Answer is Right**
The correct answer, **C. Tay-Sachs disease**, is associated with the cherry red spot due to the accumulation of GM2 ganglioside within the neurons of the retina, leading to the characteristic appearance. Tay-Sachs disease is a genetic disorder caused by a deficiency of the enzyme hexosaminidase A, which is necessary for breaking down certain fatty substances (lipids) in the brain and nerve cells. The cherry red spot is a hallmark of this condition, along with other systemic and neurological symptoms.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option is incorrect because, although some metabolic disorders can cause a cherry red spot, the specific condition related to Tay-Sachs disease is more directly linked.
- **Option B:** This option is incorrect as it does not directly relate to the well-known causes of cherry red spot.
- **Option D:** This option is incorrect because it does not accurately represent a condition associated with the cherry red spot.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl is that the cherry red spot can be seen in conditions other than Tay-Sachs disease, including Niemann-Pick disease, Fabry disease, and certain toxic exposures (like chloroquine or hydroxychloroquine toxicity). However, Tay-Sachs disease is a classic and commonly tested association.
## **Correct Answer:** . Tay-Sachs disease