LATE-ONSET LYSOSOMAL STORAGE DISORDER WITH MACULAR CHERRY-RED SPOT.

BACKGROUND: To report a case of late-onset lysosomal storage disorder presenting with bilateral macular cherry-red spot. METHODS: Case report. RESULTS: A 20-year-old female patient with bilateral progressive visual loss was found to have bilateral macular cherry-red spots and was subsequently diagnosed as a possible late-onset Tay-Sachs disease according to results of the genetic analysis. CONCLUSION: Most lysosomal storage disorders are known as pediatric diseases. However, we must consider the possibility of late-onset lysosomal disorder in case of progressive visual loss and macular cherry-red spot in adult patients.