Ophthalmology in China

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Significance and challenge of gene diagnosis for inherited retinal degenerations based on next-generation sequencing

Lei Bo   

  1. Department of Ophthalmology, Henan Provincial People's Hospital, Henan Eye Institute, Henan Clinical Research Center for Ocular Diseases, Henan Key Laboratory of Ophthalmology and Vision Science, Henan Joint International Laboratory for Ocular Pharmacology and Therapeutics, Zhengzhou 450003, China
  • Received:2020-09-07 Online:2020-09-25 Published:2020-09-25
  • Contact: Lei Bo, Email: bolei99@126.com
  • Supported by:
    National Natural Science Foundation (81770949); Henan Key Laboratory of Ophthalmology and Vision Science; Henan Clinical Research Center for Ocular Diseases

Abstract: Next-generation sequencing (NGS) technology has revolutionized genomic research with the characteristics of high throughput and low cost. NGS makes the molecular genetic diagnosis possible and established a solid groundwork for the diagnosis and treatment of inherited retinal degenerations. Nevertheless, due to lacking of genetic and bioinformatics knowledge, many ophthalmologists overlook the significance of gene testing, the selection of detection methods, the interpretation of test results, and the limitations of detections. The significance and challenges of gene diagnosis based on NGS for inherited retinal degeneration were discussed in the article. (Ophthalmol CHN, 2020, 29: 326-330)

Key words: inherited retinal degeneration, next generation sequencing, gene, copy number variation