A 9-month-old presents with irritability and developmental concerns; an exam reveals a cherry-red spot on the retina. Which disease is most consistent?

A 9-month-old presents with irritability and developmental concerns; an exam reveals a cherry-red spot on the retina. Which disease is most consistent?

• A. Cardiomyopathy
• B. Retinal detachment
• C. Cherry red spot on retina
• D. Hepatomegaly

Answer: (C)

The finding of a cherry-red spot on the retina in an infant with irritability and developmental concerns points to a lysosomal storage disorder, most classically Tay-Sachs disease. Tay-Sachs is caused by deficiency of hexosaminidase A, leading to accumulation of GM2 ganglioside in neurons and progressive neurodegeneration. The cherry-red spot arises because the surrounding retinal layers become opaque from lipid storage while the fovea remains relatively clear, producing the distinctive red spot. The infantile form typically appears by 3–6 months and progresses with poor feeding, developmental delay, hypotonia or hypertonia, exaggerated startle responses, and eventual motor decline. In contrast, hepatosplenomegaly is more typical of Niemann-Pick disease, retinal detachment is not a usual early sign, and cardiomyopathy is not a characteristic feature of Tay-Sachs. Therefore, this retinal finding in the given clinical context is most consistent with Tay-Sachs disease.

The finding of a cherry-red spot on the retina in an infant with irritability and developmental concerns points to a lysosomal storage disorder, most classically Tay-Sachs disease. Tay-Sachs is caused by deficiency of hexosaminidase A, leading to accumulation of GM2 ganglioside in neurons and progressive neurodegeneration. The cherry-red spot arises because the surrounding retinal layers become opaque from lipid storage while the fovea remains relatively clear, producing the distinctive red spot. The infantile form typically appears by 3–6 months and progresses with poor feeding, developmental delay, hypotonia or hypertonia, exaggerated startle responses, and eventual motor decline. In contrast, hepatosplenomegaly is more typical of Niemann-Pick disease, retinal detachment is not a usual early sign, and cardiomyopathy is not a characteristic feature of Tay-Sachs. Therefore, this retinal finding in the given clinical context is most consistent with Tay-Sachs disease.