Tag: Hereditary retinal disease

Analysis of genotype and phenotype of hereditary retinal diseases which are easily misdiagnosed as amblyopia

2019, No. 11, Clinical Science

Authors: Qi Rui,  Zhu Jinyan,  Wang Xiaoguang,  Zhuang Wenjuan,  Sheng Xunlun DOI: 10.3760/cma.j.issn.2095-0160.2019.11.008 Published 2019-11-10 Cite as Chin J Exp Ophthalmol, 2019,37(11): 888-895. Abstract                              [View PDF] [Read Full Text] Objective To analysis the genotype and phenotype of hereditary retinal diseases (HRD) which are easily misdiagnosed as […]

Rapid identification of pathogenic mutations in sporadic hereditary retinal dystrophies using targeted next-generation sequencing

2017, No. 12, Clinical Science

Authors: Fang Xinhe,  Zhang Fangxia,  Zhu Yan,  Liu Yani,  Sheng Xunlun DOI: 10.3760/cma.j.issn.2095-0160.2017.12.009 Published 2017-12-10 Cite as Chin J Exp Ophthalmol, 2017,35(12): 1097-1103. Abstract                              [Download PDF] [Read Full Text] Background Hereditary retinal diseases (HRDs) are a group of retinal degenerative diseases with significant genetic and clinical heterogeneities.Traditional techniques are challenging […]