Category: 2018, No. 07

PACK-CXL: corneal collagen cross-linking for infectious keratitis

Authors:  Qin Xiuhong,  Sun Xiaojing,  Lu Jianmin DOI: 10.3760/cma.j.issn.2095-0160.2018.07.018 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 570-575. Abstract Infectious keratitis is one of the leading causes of irreversible vision loss.With the emergence of multidrug-resistant pathogen, despite appropriate diagnosis and antimicrobial treatment, infectious keratitis can still result in corneal opacity and even melting and perforation.Therefore, it is […]

Role of CD160/BTLA-HVEM-LIGHT/LT-α signaling pathway related to herpetic stromal keratitis

Authors:  Tan Tianchang,  Xia Likun DOI: 10.3760/cma.j.issn.2095-0160.2018.07.017 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 564-569. Abstract Ocular infection of herpes simplex virus-1 (HSV1) can result in herpetic stromal keratitis (HSK), which impairs vision and is a common cause of human blindness.Studies indicated that HSK lesions are mainly orchestrated by CD4+ T cells.Herpesvirus entry mediator (HVEM), […]

Research progress in Bietti crystalline corneoretinal dystrophy

Authors: Zhang Zhimeng,  Li Genlin DOI: 10.3760/cma.j.issn.2095-0160.2018.07.016 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 559-563. Abstract Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal degenerative disease characterized by crystalline deposits in the retina, followed by progressive atrophy of retinal pigment epithelium (RPE), choriocapillaris and photoreceptors.CYP4V2 has been identified as causative gene for BCD.At […]

Application of CRISPR/Cas9 genome editing technology in the research of eye diseases

Authors:  Fan Xiangyu,  Xu Jianjiang DOI: 10.3760/cma.j.issn.2095-0160.2018.07.015 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 553-558. Abstract The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) is an adaptive immune system against invasive viruses and exogenous DNA, which is developed by bacteria and archaer during long-term evolution.With advances in technology, researchers have found that CRISPR/Cas9 […]

Studies on pathogenesis and gene therapy of red-green color blindness

Authors:  Xu Fan,  Pang Jijing DOI: 10.3760/cma.j.issn.2095-0160.2018.07.014 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 549-552. Abstract Red-green color blindness is the most common form of colour blindness.Traditional treatment options such as tinted lenses do not cure color blindness completely.With the rapid development of gene diagnostic and managing technology, gene therapy has been applied to inherited […]

Analysis of the genotype and phenotye in 3 pedigrees with Stargardt disease

Authors: Rong Weining,  Ma Runqing,  Fang Xinhe,  Sheng Xunlun DOI: 10.3760/cma.j.issn.2095-0160.2018.07.013 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 544-548. Abstract Objective To analyze the relationship between genotype and phenotype in 3 pedigrees with Stargardt disease. Methods Three pedigrees with Stargardt disease were included in Ningxia Eye Hospital from January 2017 to September 2017.The clinical features of patients […]

NDP gene variants analysis and clinical features of Norrie disease and familial exudative vitreoretinopathy

Authors: You Bing,  Xu Ke,  Sun Tengyang,  Zhang Xiaohui,  Xie Yue,  Li Yang DOI: 10.3760/cma.j.issn.2095-0160.2018.07.012 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 539-543. Abstract Objective To analyze the clinical features and NDP gene variants in patients with Norrie disease and familial exudative vitreoretinopathy, (FEVR). Methods Sixteen patients who were diagnosed as FEVR and 3 patients who were diagnosed as […]

The screening of pathogenic locus in a primary open angle glaucoma pedigree

Authors: Wang Junfang,  Ma Wenjiang,  Lin Ying,  Yang Zhenglin DOI: 10.3760/cma.j.issn.2095-0160.2018.07.010 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 533-536. Abstract Objective To screen the pathogenic locus and gene in a primary open angle glaucoma(POAG), and to provide a basis for molecular genetic study of POAG. Methods A POAG pedigree with 35 members was diagnosed in Sichuan peoples’ […]

Compound heterozygous mutations of CRB1 gene in a Chinese family with Leber congenital amaurosis by whole exome sequencing

Authors: Cao Yingjie,  Xiao Xiaoqiang,  Chen Shaowan,  Zheng Yuqian,  Chen Haoyu DOI: 10.3760/cma.j.issn.2095-0160.2018.07.008 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 526-530. Abstract Objective To investigate the disease-causing mutation in a family with Leber congenital amaurosis (LCA). Methods A Chinese Han pedigree with LCA from Chaoshan area was recruited in Shantou International Eye Center in August 2011.The clinical features […]

Study of natural history of Chinese patients with choroideremia

Authors:  Han Xiaoxu,  Li Hui,  Wu Shijing,  Sun Zixi,  Zhou Qi,  Sui Ruifang DOI: 10.3760/cma.j.issn.2095-0160.2018.07.007 Published 2018-07-10 Cite as Chin J Exp Ophthalmol, 2018,36(7): 519-525. Abstract Objective To provide detailed clinical and molecular genetic findings and describe the characteristics of natural history in Chinese choroideremia (CHM) patients. Methods The patients with CHM who met the inclusion criteria of at least two […]