Authors: Zhang Rong, Zhang Wanze, Lu Xi, Chen Wenqi, Zhang Wei, Yu Mei DOI: 10.3760/cma.j.cn115989-20240918-00258 Published: 2026 -03 -10 Citation Zhang Rong, Zhang Wanze, Lu Xi, et al. New variation and clinical phenotype analysis of CRYBA4 gene in a family with congenital cataract [J]. Chin J Exp Ophthalmol, 2026, 44(3):254-259. DOI: 10.3760/cma.j.cn115989-20240918-00258. ABSTRACT […]
Tag: Pedigree
Genetic analysis of a family with posterior segment microphthalmia-retinoschisis and drusen syndrome
Authors: Xie Ting, Chen Qingshan, Liang Jia, Fang Dong, Chen Lu, Zhang Shaochong DOI: 10.3760/cma.j.cn115989-20230626-00023 Published： 2024 -10 -10 Citation: Xie Ting, Chen Qingshan, Liang Jia, et al. Genetic analysis of a family with posterior segment microphthalmia-retinoschisis and drusen syndrome[J]. Chin J Exp Ophthalmol, 2024, 42(10): 919-925. DOI: 10.3760/cma.j.cn115989-20230626-00023. ABSTRACT […]
Clinical phenotype and genotype analysis of a Chinese family with congenital aniridia caused by a novel frameshift and nonsense variant in PAX6
Authors: Wang Dongdong, Du Jiao, Huang Zixu, Dan Handong, Lin Zuopeng, Song Zongming DOI: 10.3760/cma.j.cn115989-20240613-00151 Published： 2024 -10 -10 · Citation: Wang Dongdong, Du Jiao, Huang Zixu,et al. Clinical phenotype and genotype analysis of a Chinese family with congenital aniridia caused by a novel frameshift and nonsense variant in PAX6[J]. Chin J Exp Ophthalmol, 2024, 42(10): 927-931. DOI: 10.3760/cma.j.cn115989-20240613-00151. ABSTRACT […]
Clinical phenotype and genotype analysis of a family with autosomal dominant optic atrophy caused by a novel nonsense variant in OPA1
Authors: Wang Lihong, Wang Zhili, Chen Xiao, Wei Jia, Chen Kang, Cui Longjiang DOI: 10.3760/cma.j.cn115989-20231227-00224 Published： 2024 -10 -10 · Citation: Wang Lihong, Wang Zhili, Chen Xiao,et al. Clinical phenotype and genotype analysis of a family with autosomal dominant optic atrophy caused by a novel nonsense variant in OPA1[J]. Chin J Exp Ophthalmol, 2024, 42(10):932-937. DOI: 10.3760/cma.j.cn115989-20231227-00224. ABSTRACT […]
Clinical characteristics and genetic etiology of a Chinese pedigree with MFRP-associated nanophthalmos
Authors: Tao Jing, Shen Renjuan, Jin Zibing DOI: 10.3760/cma.j.cn115989-20231020-00146 Published: 2024 -09 -10 Citation: Tao J, Shen RJ, Jin ZB. Clinical characteristics and genetic etiology of a Chinese pedigree with MFRP-associated nanophthalmos[J]. Chin J Exp Ophthalmol,2024,42(9):820-826. DOI: 10.3760/cma.j.cn115989-20231020-00146. ABSTRACT [Download PDF] [Read Full Text] Objective To explore the clinical characteristics and genetic etiology of a […]
Clinical and molecular genetic study of a Chinese Han family with X-linked retinoschisis
Wang Tingting, Zhu Yihua, Fan Mengjie, Luo Xiaoling, Zhang Linyan, Zhang Daren, Ding Xiaoyan, Liu Xuyang DOI: 10.3760/cma.j.cn115989-20210922-00523 Published 2023-09-10 Cite as Chin J Exp Ophthalmol, 2023, 41(9): 864-870. Abstract 【Download PDF】 【Read Full Text】 Objective To study the clinical phenotype and molecular genetic characteristics of a Chinese Han family with […]
Next generation sequencing based molecular genetic analysis of a Chinese Han family with autosomal retinitis pigmentosa
Authors: Zhou Xiaomin, Huang Hui, Wang Ying, Wu Jing, Fan Ning, Jiang Shanming, Liu Xuyang DOI: 10.3760/cma.j.issn.2095-0160.2015.08.006 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 699-703. Abstract [Download PDF] [Read Full Text] Background Retinitis pigmeutosa (RP) is a progressive inheritance disease. […]
Application of next-generation sequencing in detection of mutation gene in a Chinese pedigree with congenital cataract
Authors: Xiao Hai, Zhang Hui, Li Tao, Wu Dong, Zhang Chaoyang, Shi Weili, Qin Litao, Liao Shixiu DOI: 10.3760/cma.j.issn.2095-0160.2015.08.008 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 705-709. Abstract [Download PDF] [Read Full Text] Background Due to the genetic heterogeneity of […]
Detection of disease-causing gene in a Hui congential cataract pedigree by exon combined target region capture sequencing chip
Authors: Rong Weining, Zou Gang, Sheng Xunlun, Li Huiping, Zhang Fangxia DOI: 10.3760/cma.j.issn.2095-0160.2015.08.010 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 711-715. Abstract [Download PDF] [Read Full Text] Background Congenital cataract is an important cause of blindness and amblyopia in children, […]
A recurrent mutation of CRYGD gene in a northern Chinese family with autosomal dominant congenital nuclear cataract
Authors: Zhang Xiaohui, Liu Weihua, Dong Bing, Chen Jieqiong, Li Yang DOI: 10.3760/cma.j.issn.2095-0160.2015.08.012 Published 2015-08-10 Cite as Chin J Exp Ophthalmol, 2015,33(8): 722-726. Abstract [Download PDF] [Read Full Text] Background Congenital cataract is a major cause for blindness of childhood. Genetic […]