Eye Clinic, Arcispedale Sant' Anna University Hospital, Ferrara, Italy.
Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy.
Eur J Ophthalmol. 2021 May;31(3):NP93-NP95. doi: 10.1177/1120672120920536. Epub 2020 Apr 22.
To describe a new genetic variation of BEST1 gene in Best vitelliform macular dystrophy.
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.
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.
These findings contribute to expand the mutation spectrum of BEST1 gene.
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。
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。
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)。
这些发现有助于扩大 BEST1 基因的突变谱。
