What condition is associated with cherry red spots?

Cherry red spots are characteristic findings observed in certain metabolic disorders, particularly those that affect the central nervous system. In the context of Gaucher disease, these spots appear on the retina and are due to the accumulation of lipids within cells, leading to alterations in the structure of the retina.

Gaucher disease is a genetic disorder resulting from the deficiency of the enzyme glucocerebrosidase, which is essential for breaking down a specific type of fat molecule called glucocerebroside. When this enzyme is deficient, glucocerebrosides accumulate in various tissues, including the liver, spleen, bone marrow, and neurological tissues. The cherry red spot specifically arises because the surrounding retinal pigment epithelium remains intact, while the accumulation of lipids creates a contrast that appears red against the paler area.

The other conditions listed typically do not present with cherry red spots. Marfan syndrome primarily involves connective tissue disorders and is characterized by skeletal and cardiovascular abnormalities. Multiple Endocrine Neoplasia encompasses a group of syndromes related to tumors of the endocrine glands, which do not include retinal findings like cherry red spots. Turner syndrome, a chromosomal condition affecting females, is associated with various physical and developmental characteristics but not with prominent retinal signs