个人科研网厅 | | 帮助
高级检索
当前位置： 首页 > 详情页

Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree

| 认领 | 导出 | |

文献详情

资源类型：
WOS体系：
Pubmed体系：

收录情况： ◇ SCIE

作者：
Hu, Feng[1,2,3,*1] * ; Li, Qian[1] * ; Shi, Jie[1,2,3] * ; Wang, Ru[4] ; Zhang, Yongpeng[1] ; Cao, Xinyang[1,2,3] ; Zhang, Xin[5] ; Ma, Ya[1,2,3] ; Wang, Ge[1,2,3] ; Peng, Xiaoyan[1,2,3,*1] ;
机构： [1]Capital Medical University, Beijing Tongren Hospital, Beijing Tongren Eye Center, Beijing, China [2]Beijing Institute of Ophthalmology, Beijing, China [3]Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China [4]Department of Ophthalmology, Xi’an People’s Hospital, Xi’an, China [5]Department of Ophthalmology, Beijing Puren Hospital, Beijing, China
出处：
DOI： 10.1177/11206721231167767
ISSN：

关键词： Autosomal recessive bestrophinopathy best vitelliform macular dystrophy BEST1 gene glaucoma ultrasound biomicroscopy

摘要：
Purpose This study aimed to evaluate the clinical and genetic characteristics of eight members from a Chinese Han family who displayed autosomal recessive bestrophinopathy (ARB)-like retinal changes in autosomal dominant (AD) inheritance pattern. Methods Clinical investigations included slit-lamp, tonometry, fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence, electrooculography, and ultrasound biomicroscopy. Ocular axial length measurements were collected retrospectively. The targeted exome sequencing (TES) was applied for the genetic analysis of the proband. PCR-based Sanger sequencing was performed on the family for validation and co-segregation analysis. Results Eight members in the three-generation pedigree complained about vision loss and seven of them had detailed clinical assessments, demonstrating ocular phenotypes including extramacular and vascular arcades subretinal deposits and Arden ratio decline on electrooculography that resembled ARB. Bilateral anterior chamber structure abnormalities were observed in seven cases and three patients were diagnosed with angle-closure glaucoma. Despite clinical phenotypes supporting ARB, there was only a single heterozygous mutation of c.227T > C (p.Ile76Thr) in the BEST1 gene detected in all eight patients, which showcased AD inheritance. Conclusions An ARB-like phenotype could be caused by a heterozygous mutation of the BEST1 gene and inherited in an AD fashion.

基金：
Beijing Municipal Natural Science Foundation (Grant No. 7192039), The Capital Health Research and Development of Special(sf2018-2- 1081), Capital Medical University Affiliated Beijing Tongren Hospital Key Medical Development Plan (trzdyxzy201801).
语种：
外文
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2022]版：
大类 | 4 区 医学
小类 | 4 区 眼科学
最新[2023]版：
大类 | 4 区 医学
小类 | 4 区 眼科学
JCR分区：
出版当年[2021]版：
Q4 OPHTHALMOLOGY
最新[2023]版：
Q3 OPHTHALMOLOGY

影响因子： 最新[2023版] 最新五年平均 出版当年[2021版] 出版当年五年平均 出版前一年[2020版] 出版后一年[2022版]

第一作者：
第一作者机构： [1]Capital Medical University, Beijing Tongren Hospital, Beijing Tongren Eye Center, Beijing, China [2]Beijing Institute of Ophthalmology, Beijing, China [3]Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China [*1]Beijing Ophthalmology and Visual Science Key Laboratory, Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 17 Hougou Lane, Chongnei Street, Beijing, 100005, P.R. China. Capital Medical University, Beijing Tongren Hospital, Beijing Tongren Eye Center, Beijing, China .Beijing Institute of Ophthalmology, Beijing, China .Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
共同第一作者：
通讯作者：
通讯机构： [1]Capital Medical University, Beijing Tongren Hospital, Beijing Tongren Eye Center, Beijing, China [2]Beijing Institute of Ophthalmology, Beijing, China [3]Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China [*1]Beijing Ophthalmology and Visual Science Key Laboratory, Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 17 Hougou Lane, Chongnei Street, Beijing, 100005, P.R. China. Capital Medical University, Beijing Tongren Hospital, Beijing Tongren Eye Center, Beijing, China .Beijing Institute of Ophthalmology, Beijing, China .Beijing Ophthalmology and Visual Science Key Laboratory, Beijing, China.
推荐引用方式(GB/T 7714)：
Hu Feng,Li Qian,Shi Jie,et al.Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree[J].EUROPEAN JOURNAL OF OPHTHALMOLOGY.2023,33(6):2131-2138.doi:10.1177/11206721231167767.
APA：
Hu, Feng,Li, Qian,Shi, Jie,Wang, Ru,Zhang, Yongpeng...&Peng, Xiaoyan.(2023).Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.EUROPEAN JOURNAL OF OPHTHALMOLOGY,33,(6)
MLA：
Hu, Feng,et al."Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree".EUROPEAN JOURNAL OF OPHTHALMOLOGY 33..6(2023):2131-2138

相关文献

[1]Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy [2]Screening of BEST1 gene in a Chinese cohort with Best vitelliform macular dystrophy or autosomal recessive bestrophinopathy [3]Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report [4]Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report [5]A novel mutation of the VMD2 gene in a chinese family with best vitelliform macular dystrophy [6]卵黄样黄斑营养不良致病基因的两个新突变 [7]Applications of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy [8]Findings of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy [9]Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Autosomal Recessive Bestrophinopathy [10]隐性遗传性卵黄样营养不良临床及视网膜影像学特点分析

资源点击量：21166 今日访问量：0 总访问量：1219 更新日期：2025-01-01 建议使用谷歌、火狐浏览器 常见问题

版权所有©2020 首都医科大学附属北京同仁医院 技术支持：重庆聚合科技有限公司 地址：北京市东城区东交民巷1号(100730)