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

doi:10.13281/j.cnki.issn.1004-4469.2020.05.002

Ophthalmology in China

Previous Articles Next Articles

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

Lei Bo

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

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

Lei Bo. Significance and challenge of gene diagnosis for inherited retinal degenerations based on next-generation sequencing [J]. Ophthalmology in China, doi: 10.13281/j.cnki.issn.1004-4469.2020.05.002.

[1]	Li Wensheng1, Chen Xiaodong2. Current status and challenges of the gene therapy clinical trials for hereditary retinal diseases [J]. Ophthalmology in China, 2020, 29(4): 241-245.
[2]	Yu Xiaowei, Yang Xue, Zhao Zhenni, Fan Zhigang. New concepts to explore the pathogenesis and pathogenic genes of primary angle-closure glaucoma [J]. Ophthalmology in China, 2020, 29(4): 246-254.
[3]	Wei Zhenyu, Xu Ke, Liang Qingfeng. Clinical characteristics under in vivo confocal microscopy and TGFBI gene mutation analysis in Thiel-Behnke corneal dystrophy [J]. Ophthalmology in China, 2020, 29(3): 173-179.
[4]	Li Yang. Opportunities and challenges of clinical and basic research on Bietti crystalline dystrophy [J]. Ophthalmology in China, 2020, 29(2): 84-86.
[5]	Xu Ke, Zhang Xiaohui, Xie Yue, Ye Hanwen, You Bing, Li Yang. Clinical features of Bietti crystalline corneoretinal dystrophy caused by mutations in the CYP4V2 gene [J]. Ophthalmology in China, 2020, 29(2): 93-97.
[6]	Ye Hanwen, Sun Tengyang, Xu Ke, Xie Yue, You Bing, Li Yang. Genotype and clinical characteristics of Usher syndrome patients with pathogenic mutations in MYO7A gene [J]. Ophthalmology in China, 2020, 29(2): 98-103.
[7]	Liu Ying1, He Xujun2, Chen Jianbin1, Li Zhichen1, Mei Weiqun1, Zhang Huabei1, Ouyang Jian1, Qian Jiali1. A preliminary study of transcriptome in patients with diabetic retinopathy [J]. Ophthalmology in China, 2020, 29(2): 105-113.
[8]	Yang Qiong, Wang Hong, Mo Bin, Zhou Wenjia, You Bing, Wei Wenbin. Ocular manifestations and gene detection of transthyretin-related vitreous amyloidosis [J]. Ophthalmology in China, 2020, 29(2): 114-117.
[9]	YAN Shu, SHAO Ling, DU Min, SHEN Ce-ying, LI Yan, LIU Yu, CHAO Yang-yang, YANG Kai-zhuan. Effective factors of one-year visual outcomes after intravitreal injection of ranibizumb for wet age-related macular degeneration [J]. Ophthalmology in China, 2019, 28(6): 433-437.
[10]	FENG Bing-kai1, LIU Xu-yang1,2, HE Fen1, LI Dan-li1, ZHANG Da-ren2, ZHAO Lin3, FAN Ning1. . Molecular genetics and clinical manifestations analysis of COL1A1 gene in two Chinese families with osteogenesis imperfecta [J]. Ophthalmology in China, 2019, 28(4): 273-279.
[11]	CHEN Chun-jie, XIAO Ting, XU Ke, XIE Yue, ZHANG Xiao-hui, LI Yang. Genetic and phenotype characteristics analysis of two Waardenburg syndrome families [J]. Ophthalmology in China, 2019, 28(3): 212-218.
[12]	ZHAO Xu-li, ZHANG Di, YANG Guang, HUANG Ge. Comparison of two different regimens of intravitreal ranibizumab therapy for macular edema secondary to central retinal vein occlusion [J]. Ophthalmology in China, 2019, 28(2): 111-114.
[13]	ZHANG Bian-wen， LIU Sheng-chun， WU Ming-xing， XIONG Xiao-jing， WANG Hao， ZHOU Xi-yuan. Association of polymorphism of VEGF gene and age-related macular degeneration in the Tujia population from Southwest Chongqing of China [J]. Ophthalmology in China, 2019, 28(2): 136-140.
[14]	LIU Zhao-hui, GAO Xiao-hong, LI Gai-yun, LI Hai-yan, ZHANG Xi-mei, MA Tao. . Effects of intravitreal ranibizumab injection on VEGF-A, VEGF-B, PIGF and vitrectomy in eye of proliferative diabetic retinopathy [J]. Ophthalmology in China, 2018, 27(4): 258-263.
[15]	JIA Hong-yan1, JIAO Yong-hong1, CHANG Qing-lin2, WANG Hui1, LIANG Yi1, GUO Rui1. . Clinical phenotype and MRI image characteristics of congenital fibrosis of extraocular muscles with different TUBB3 mutations [J]. Ophthalmology in China, 2018, 27(4): 276-280.

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

PDF (PC)

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics

Comments