Best 病中 BEST1 基因的一种新突变。
A novel mutation of BEST1 gene in Best disease.
机构信息
Eye Clinic, Arcispedale Sant' Anna University Hospital, Ferrara, Italy.
Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy.
出版信息
Eur J Ophthalmol. 2021 May;31(3):NP93-NP95. doi: 10.1177/1120672120920536. Epub 2020 Apr 22.
PURPOSE
To describe a new genetic variation of BEST1 gene in Best vitelliform macular dystrophy.
METHODS
A patient with bilateral multiple retinal yellowish lesions at the posterior pole underwent fluorescein angiography, fundus autofluorescence, optical coherence tomography, electrooculogram and blood sample for genetic testing.
RESULTS
A diagnosis of a Best vitelliform macular dystrophy was made. Heterozygous mutation c.76G > A (p.Gly26Ser) in exon 2 of the BEST1 gene was found.
CONCLUSION
These findings contribute to expand the mutation spectrum of BEST1 gene.
目的
描述 Best 卵黄样黄斑营养不良中 BEST1 基因的一种新的遗传变异。
方法
一名双侧后极部多发性视网膜黄色病灶患者接受了荧光素血管造影、眼底自发荧光、光学相干断层扫描、眼电图和血液样本进行基因检测。
结果
诊断为 Best 卵黄样黄斑营养不良。在 BEST1 基因的外显子 2 中发现了杂合突变 c.76G ＞A(p.Gly26Ser)。
结论
这些发现有助于扩大 BEST1 基因的突变谱。
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