Tag: Gene

Identification of novel compound heterozygous mutations of USH2A gene in a RP pedigree by targeted-capture next generation sequencing

2016, No. 03, Clinical Science

Authors: Wang Ying,  Huang Hui,  Fan Ning,  Wu Jing,  Zhou Xiaomin,  Yin Yan,  Wang Yun,  Liu Xuyang DOI: 10.3760/cma.j.issn.2095-0160.2016.03.011 Published 2016-03-10 Cite as Chin J Exp Ophthalmol, 2016,34(3): 244-247. Abstract                              [Download PDF] [Read Full Text] Background RP is the term given to a set of hereditary retinal diseases.RP has […]

Gene research progress of retinoblastoma

2017, No. 08, Review

Authors: Yu Tian,  Chen Changzheng,  Xing Yiqiao DOI: 10.3760/cma.j.issn.2095-0160.2017.08.019 Published 2017-08-10 Cite as Chin J Exp Ophthalmol, 2017,35(8): 756-760. Abstract                               [Download PDF] [Read Full Text] Retinoblastoma (RB) is a common intraocular malignant tumor of infants.It not only seriously threats children’s eyesight, but also endangers their lives.RB develops from […]

Study of natural history of Chinese patients with choroideremia

2018, No. 07, Clinical Science

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                              [Download PDF] [Read Full Text] Objective To provide detailed clinical and molecular genetic findings and describe the characteristics of natural history in Chinese choroideremia (CHM) […]

Research progress on single nucleotide polymorphisms of genes associated with diabetic retinopathy

2019, No. 05, Review

Authors: Han Junlin,  Han Mei DOI: 10.3760/cma.j.issn.2095-0160.2019.05.014 Published 2019-05-10 Cite as Chin J Exp Ophthalmol, 2019,37(5): 390-395. Abstract                                    [View PDF] [Read Full text] Diabetic retinopathy (DR) is the common cause of irreversible vision loss in adults during working age, […]