Journal of Clinical and Experimental Ophthalmology
Open Access

Department of Ophthalmology, University Hospital and University of Zurich, Zurich, Switzerland

Publications

• Research Article   
  A novel NYX gene mutation identified in a Chinese Northeast Han family with high myopia and night blindness
  Author(s): Xiaoyi*
  
  Objective: This study aimed to investigate and identify the underlying pathogenic gene mutation responsible for high myopia and congenital night blindness within a family from Northeast China, thereby contributing to a better understanding of the genetic basis and hereditary patterns associated with these ocular disorders. Methods: Whole-exome sequencing was conducted to screen for genetic variations among family members, while AlphaFold2 was utilized to predict the tertiary structure of the associated protein. This structural analysis was further complemented by molecular dynamics simulations to assess conformational alterations resulting from the identified mutation. In parallel, comprehensive clinical evaluations, including detailed ophthalmic examinations, assessment of refractive status, and fundus imaging, were performed to characteriz.. View More»
  

  Abstract PDF