Tag: Gene mutation

Progress of GNAQ/GNA11 mutation in uveal melanoma

2018, No. 10, Review

Authors: Zheng Lei,  Zhang Guoming DOI: 10.3760/cma.j.issn.2095-0160.2018.10.012 Published 2018-10-10 Cite as Chin J Exp Ophthalmol, 2018,36(10): 791-795. Abstract                               [Download PDF] [Read Full Text] Uveal melanoma (UM) is the most common primary intraocular tumor in adults, which not only affects patients’ visual function, but easily leads to death.Despite […]

Emphasizing on the importance of RB1 genetic testing in diagnosis/treatment and genetic counseling of retinoblastoma

2018, No. 10, Editorial

Authors: Chen Danian,  Fan Yimeng DOI: 10.3760/cma.j.issn.2095-0160.2018.10.002 Published 2018-10-10 Cite as Chin J Exp Ophthalmol, 2018,36(10): 742-747. Abstract                              [Download PDF] [Read Full Text] Retinoblastoma (RB) is the prototype of hereditary neoplasms in humans.It is the most common intraocular malignancy in children, which is mainly caused by RB1 […]

Genotype-phenotype analysis of five families with congenital ectopia lentis accompanied with cardiovascular abnormalities

2019, No. 04, Clinical Science

Authors: Zhou Yijing,  Yang Jing,  Cao Qianzhong,  Jin Guangming,  Zheng Danying DOI: 10.3760/cma.j.issn.2095-0160.2019.04.005 Published 2019-04-10 Cite as Chin J Exp Ophthalmol, 2019,37(4): 263-268. Abstract                            [View PDF] [Read Full Text] Objective To analyze the genotype-phenotype correlation in 5 families with congenital ectopia lentis (CEL) accompanied with cardiovascular abnormal manifestation. Methods Detailed clinical […]