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高通量测序在眼科疾病中的应用进展

Application Progress of High-Throughput Sequencing in Ocular Diseases.

作者信息

He Xuejun, Zhang Ningzhi, Cao Wenye, Xing Yiqiao, Yang Ning

机构信息

Eye Center, Renmin Hospital of Wuhan University, 238 Jiefang Road, Wuhan 430060, China.

Aier Eye Hospital of Wuhan University, 481 Zhongshan Road, Wuhan 430000, China.

出版信息

J Clin Med. 2022 Jun 17;11(12):3485. doi: 10.3390/jcm11123485.

Abstract

Ocular diseases affect multiple eye parts and can be caused by pathogenic infections, complications of systemic diseases, genetics, environment, and old age. Understanding the etiology and pathogenesis of eye diseases and improving their diagnosis and treatment are critical for preventing any adverse consequences of these diseases. Recently, the advancement of high-throughput sequencing (HTS) technology has paved wide prospects for identifying the pathogenesis, signaling pathways, and biomarkers involved in eye diseases. Due to the advantages of HTS in nucleic acid sequence recognition, HTS has not only identified several normal ocular surface microorganisms but has also discovered many pathogenic bacteria, fungi, parasites, and viruses associated with eye diseases, including rare pathogens that were previously difficult to identify. At present, HTS can directly sequence RNA, which will promote research on the occurrence, development, and underlying mechanism of eye diseases. Although HTS has certain limitations, including low effectiveness, contamination, and high cost, it is still superior to traditional diagnostic methods for its efficient and comprehensive diagnosis of ocular diseases. This review summarizes the progress of the application of HTS in ocular diseases, intending to explore the pathogenesis of eye diseases and improve their diagnosis.

摘要

眼部疾病会影响多个眼部部位,其病因可能是致病性感染、全身性疾病的并发症、遗传因素、环境因素以及衰老。了解眼部疾病的病因和发病机制,并改善其诊断和治疗方法,对于预防这些疾病的任何不良后果至关重要。近年来,高通量测序(HTS)技术的进步为确定眼部疾病的发病机制、信号通路和生物标志物开辟了广阔前景。由于HTS在核酸序列识别方面的优势,它不仅鉴定出了几种正常的眼表微生物,还发现了许多与眼部疾病相关的致病细菌、真菌、寄生虫和病毒,包括以前难以鉴定的罕见病原体。目前,HTS可以直接对RNA进行测序,这将推动对眼部疾病发生、发展及潜在机制的研究。尽管HTS存在一定局限性,如效率低、易污染和成本高,但它在眼部疾病的高效综合诊断方面仍优于传统诊断方法。本综述总结了HTS在眼部疾病应用方面的进展,旨在探索眼部疾病的发病机制并改善其诊断。

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