伴有黄斑樱桃红斑的迟发性溶酶体贮积症。
LATE-ONSET LYSOSOMAL STORAGE DISORDER WITH MACULAR CHERRY-RED SPOT.
作者信息
Gahramanova Leyla, Galbinur Tural, Mammadkhanova Ayan
机构信息
Ophthalmology Division, Caspian International Hospital, Baku, Azerbaijan ; and.
Department of Ophthalmology, Azerbaijan Medical University, Baku, Azerbaijan .
出版信息
Retin Cases Brief Rep. 2021 Sep 1;15(5):602-604. doi: 10.1097/ICB.0000000000000860.
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.
背景
报告一例以双侧黄斑樱桃红斑为表现的迟发性溶酶体贮积症病例。
方法
病例报告。
结果
一名20岁双侧进行性视力丧失的女性患者被发现有双侧黄斑樱桃红斑，随后根据基因分析结果被诊断为可能的迟发性泰-萨克斯病。
结论
大多数溶酶体贮积症被认为是儿科疾病。然而，对于成年患者出现进行性视力丧失和黄斑樱桃红斑的情况，我们必须考虑迟发性溶酶体疾病的可能性。
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