Which autosomal recessive disorder presents with a cherry red spot in the macula?

Which autosomal recessive disorder presents with a cherry red spot in the macula?

• A. Tay-Sachs disease
• B. Gaucher disease
• C. Niemann-Pick disease
• D. Wilson disease

Answer: (A)

The main idea is that a cherry-red spot in the macula is a classic retinal sign produced by lipid buildup in retinal ganglion cells surrounding the fovea, while the fovea itself appears red due to the underlying choroidal blood supply. In Tay-Sachs disease, a deficiency of hexosaminidase A causes accumulation of GM2 ganglioside in neurons, including retinal cells, leading to the paleened retina with a preserved red spot at the center—the cherry-red macula. This combination of a distinctive retinal finding with early neurodegeneration fits Tay-Sachs, an autosomal recessive lysosomal storage disorder. The other options don’t tightly match both the genetic pattern and this specific macular sign: Gaucher and Niemann-Pick are lysosomal storage diseases with other hallmark features, and Wilson disease centers on copper metabolism with Kayser-Fleischer rings rather than a cherry-red macula.

The main idea is that a cherry-red spot in the macula is a classic retinal sign produced by lipid buildup in retinal ganglion cells surrounding the fovea, while the fovea itself appears red due to the underlying choroidal blood supply. In Tay-Sachs disease, a deficiency of hexosaminidase A causes accumulation of GM2 ganglioside in neurons, including retinal cells, leading to the paleened retina with a preserved red spot at the center—the cherry-red macula. This combination of a distinctive retinal finding with early neurodegeneration fits Tay-Sachs, an autosomal recessive lysosomal storage disorder. The other options don’t tightly match both the genetic pattern and this specific macular sign: Gaucher and Niemann-Pick are lysosomal storage diseases with other hallmark features, and Wilson disease centers on copper metabolism with Kayser-Fleischer rings rather than a cherry-red macula.