具有致病CEP290突变的非综合性视网膜色素炎

Bijal A Kikani1, Jordan A Ueberroth2, Cory A Christensen2

  • 1Norton College of Medicine, State University of New York Upstate Medical University, Syracuse.

概括

这项研究详细介绍了一种罕见的视网膜炎色素炎病例,该病因CEP290基因突变引起的中央视力受损,扩大了这种遗传性眼睛疾病的已知谱.