Miguel Cruz-Pimentel1, Thomas Wright1,2, Kenneth T Eng1,3

  • 1Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Ontario, Canada.

Ophthalmic genetics
|June 25, 2025
PubMed
概括

最好的Vitelliform黄斑发育不良 (BVMD) 可以单方面呈现,尽管双边视网膜色素上皮质 (RPE) 功能障碍. 针对BEST1变异的基因测试对于诊断贝斯特罗菲诺帕蒂和告知预后至关重要.