Which disorder can result in both cherry-red spots on the macula and is caused by ganglioside accumulation?

Which disorder can result in both cherry-red spots on the macula and is caused by ganglioside accumulation?

• A. Niemann-Pick disease
• B. Tay-Sachs disease
• C. Gaucher's disease
• D. Crigler-Najjar syndrome

Answer: (B)

Tay-Sachs disease is a neurodegenerative disorder caused by the accumulation of GM2 gangliosides due to a deficiency in the enzyme hexosaminidase A. This accumulation primarily affects the central nervous system and leads to progressive neurological deterioration. One of the characteristic clinical findings in Tay-Sachs disease is the appearance of cherry-red spots on the macula, which occur because of the loss of ganglion cells and the underlying choroidal vessels becoming more visible. In the context of the other conditions, Niemann-Pick disease is also associated with cherry-red spots but is due to sphingomyelin accumulation, not gangliosides. Gaucher's disease is linked to glucocerebroside accumulation and does not typically present with cherry-red spots. Crigler-Najjar syndrome involves a defect in bilirubin metabolism, leading to hyperbilirubinemia, and does not relate to ganglioside accumulation or present with cherry-red spots. Thus, the specific connection of Tay-Sachs disease with both cherry-red spots and ganglioside accumulation makes it the correct answer.

Tay-Sachs disease is a neurodegenerative disorder caused by the accumulation of GM2 gangliosides due to a deficiency in the enzyme hexosaminidase A. This accumulation primarily affects the central nervous system and leads to progressive neurological deterioration. One of the characteristic clinical findings in Tay-Sachs disease is the appearance of cherry-red spots on the macula, which occur because of the loss of ganglion cells and the underlying choroidal vessels becoming more visible.

In the context of the other conditions, Niemann-Pick disease is also associated with cherry-red spots but is due to sphingomyelin accumulation, not gangliosides. Gaucher's disease is linked to glucocerebroside accumulation and does not typically present with cherry-red spots. Crigler-Najjar syndrome involves a defect in bilirubin metabolism, leading to hyperbilirubinemia, and does not relate to ganglioside accumulation or present with cherry-red spots. Thus, the specific connection of Tay-Sachs disease with both cherry-red spots and ganglioside accumulation makes it the correct answer.