The causes of retinal dystrophy and the development of more comprehensive screening approach


Abstract

Summary:

This paper discusses the use of next generation sequencing to identify pathogenic variants in patients with inherited retinal diseases (IRDs), and provides detailed results from several case studies.
Categories

Categories

  • Eye health: The paper focuses on inherited retinal diseases, discussing the use of next generation sequencing to identify pathogenic variants in patients with these conditions.
  • Genetic Disorders: The paper discusses inherited retinal diseases, which are genetic disorders caused by variants in around 280 genes.
  • Medical Research: The paper presents research on the use of next generation sequencing to identify pathogenic variants in patients with inherited retinal diseases.
Authors

Author(s)

SAA Yahya
Publication Date

Publication Year:

2023
Citations

Number of Citations:

0