Ophthalmology in China ›› 2014, Vol. 23 ›› Issue (6): 361-364.doi: 10.13281/j.cnki.issn.1004-4469.2014.06.001

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Genetic diagnosis of hereditary retinal diseases

SUI Rui-fang, ZOU Xuan   

  1. Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Scienses, Beijing 100730, China
  • Received:2014-09-28 Online:2014-11-25 Published:2014-12-01
  • Contact: SUI Rui-fang, Email: hrfsui@163.com E-mail:hrfsui@163.com

Abstract: Inherited retinal diseases are a group of blindness disease with high clinical and genetic heterogeneity. Clinical diagnosis cannot provide enough information for etiology, treatment and prognosis. Genetic diagnosis, by identifying the disease-causing mutation, is very important for genetic counseling and proper therapy. Traditional genetic testing techniques include linkage analysis, direct sequencing (Sanger sequencing) and DNA chip technology. Recently, next generation sequencing (NGS) has been successfully applied to a variety of retinal disease researches, which improved the molecular diagnostic rate and reduced time and cost. Genetic diagnosis of hereditary retinal diseases in China is in the early stage. Funding support, specialized personnel and professional standards are essential for an ideal clinical diagnostic platform.

Key words: retinal diseases/ hereditary, genetic diagnosis, genetic therapy