Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy.
Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy.
复制标题
Best 黄斑营养不良患者孤立性视网膜星形细胞错构瘤的表现。
DOI：
10.1016/j.ajoc.2018.12.009
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发表时间：
2019
影响因子：
--
通讯作者：
Yang,Paul
中科院分区：
文献类型：
--
作者：
Taylor,StanfordC;VasconcelosJr,HuberM;Yang,Paul
PurposeTo报告的情况下，一个青少年男性的历史最好的黄斑营养不良和视网膜星形细胞错构瘤observationsA 15岁的男性的历史最好的黄斑营养不良谁一直遵循了9年的眼科注意到有进行性扩大的鼻上视乳头周围视网膜病变。影像学和检查结果与视网膜星形细胞错构瘤的诊断一致。没有眼外体征或症状可诊断为有晶状体眼。BEST 1基因突变检测阳性，而TSC 1和TSC 2基因突变检测阴性。结论和重要性视网膜星形细胞错构瘤与Best黄斑营养不良的相关性是不寻常的，该病例强调了需要平衡的方法来处理潜在的复杂检查。
PurposeTo report the case of an adolescent male with a history of Best macular dystrophy and retinal astrocytic hamartoma.ObservationsA 15 year old male with a history of Best macular dystrophy who had been followed by ophthalmology for 9 years was noted to have progressive enlargement of a superonasal peripapillary retinal lesion. Imaging and exam are consistent with a diagnosis of retinal astrocytic hamartoma. There were no extraocular signs or symptoms that were diagnostic of a phakamatosis. Genetic testing was positive for a mutation inBEST1, but notTSC1orTSC2.Conclusions and ImportanceRetinal astrocytic hamartoma is an unusual association with Best macular dystrophy, and this case highlights the balanced approach needed to navigate a potentially complex work-up.