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LATE-ONSET LYSOSOMAL STORAGE DISORDER WITH MACULAR CHERRY-RED SPOT
Leyla Gahramanova1, Tural Galbinur1,2, Ayan Mammadkhanova1
1Ophthalmology Division, Caspian International Hospital, Baku, Azerbaijan ; and.
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.
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