最好的状黄斑缩症是由BEST1 p.(Ser246Asn) 变体引起的,与糖尿病视网膜病变共存

Yusuke Tatemoto1,2, Takaaki Hayashi3, Kei Mizobuchi1,2

  • 1Department of Ophthalmology, The Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-ku, Tokyo, 105-8461, Japan.

概括

这项研究报告了BVMD (Best vitelliform macular dystrophy) 的一个独特病例,该病例发生在一名同时被诊断为糖尿病视网膜病变的患者身上. 基因分析揭示了一种新的BEST1基因变异,强调了综合诊断方法的重要性.

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