Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.
Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.
复制标题
DOI：
10.3389/fcell.2021.635216
复制
发表时间：
2021
影响因子：
5.5
通讯作者：
Li S
中科院分区：
文献类型：
--
作者：
Meng X;Long Y;Ren J;Wang G;Yin X;Li S
Bardet-Biedl综合征（BBS; OMIM 209900）是一种罕见的遗传性疾病，可导致多个器官受损，并影响青春期后期或成年早期患者的生活质量。本研究应用分子诊断学方法对10个中国家系的12例BBS患者的眼部形态和功能进行了分析。在10个中国BBS家系中，共检测到4个BBS基因的5个已知变异和12个新变异（BBS 2，58.33%; BBS 4，8.33%; BBS 7，16.67%; BBS 9，16.67%）。所有患者均具有典型的视网膜色素变性表型，在全视野闪光视网膜电图（ffERG）上具有不可记录或严重受损的视锥和视杆反应。大多数患者的图形视觉诱发电位（PVEP）和多焦视网膜电图（mfERG）无明显反应，闪光视觉诱发电位（FVEP）显示残余视功能。眼底形态的改变，包括彩色眼底照相和自体荧光（AF）成像，是异质性的，与患者的功能测试不一致。总体而言，我们的研究扩大了BBS基因的变异谱，表明BBS患者的眼部特征在临床上高度异质性，并证明ffERG和FVEP联合评估视功能在BBS视网膜病变晚期的有用性。
Bardet–Biedl syndrome (BBS; OMIM 209900) is a rare genetic disease causing damage to multiple organs and affecting patients’ quality of life in late adolescence or early adulthood. In this study, the ocular characteristics including morphology and function, were analyzed in 12 BBS patients from 10 Chinese families by molecular diagnostics. A total of five known and twelve novel variants in four BBS genes (BBS2, 58.33%; BBS4, 8.33%; BBS7, 16.67%; and BBS9, 16.67%) were identified in 10 Chinese families with BBS. All patients had typical phenotypes of retinitis pigmentosa with unrecordable or severely damaged cone and rod responses on full-field flash electroretinography (ffERG). Most of the patients showed unremarkable reactions in pattern visual evoked potential (PVEP) and multifocal electroretinography (mfERG), while their flash visual evoked potentials (FVEP) indicated display residual visual function. Changes in the fundus morphology, including color fundus photography and autofluorescence (AF) imaging, were heterogeneous and not consistent with the patients’ functional tests. Overall, our study expands the variation spectrum of the BBS gene, showing that the ocular characteristics of BBS patients are clinically highly heterogeneous, and demonstrates the usefulness of a combination of the ffERG and FVEP assessments of visual function in the advanced stage of retinopathy in BBS.
登录
查看更多内容
影响因子：
--
作者：
Esposito G;Testa F;Zacchia M;Crispo AA;Di Iorio V;Capolongo G;Rinaldi L;D'Antonio M;Fioretti T;Iadicicco P;Rossi S;Franzè A;Marciano E;Capasso G;Simonelli F;Salvatore F
通讯作者：
Salvatore F
影响因子：
2
作者：
Dan, Handong;Huang, Xin;Shen, Yin
通讯作者：
Shen, Yin
影响因子：
14.9
作者：
Desmet FO;Hamroun D;Lalande M;Collod-Béroud G;Claustres M;Béroud C
通讯作者：
Béroud C
DOI：
10.1002/j.1550-8528.1995.tb00167.x
发表时间：
1995-07-01
期刊：
OBESITY RESEARCH
影响因子：
--
作者：
BIEDL, A
通讯作者：
BIEDL, A
DOI：
10.2215/cjn.03320410
发表时间：
2011-01-01
影响因子：
9.8
作者：
Imhoff, Olivier;Marion, Vincent;Moulin, Bruno
通讯作者：
Moulin, Bruno