Bardet-Biedl综合征眼底病变影像学特征

发布时间：2018-05-20 15:57

本文选题：Bardet-Biedl综合征 + 频域相干光断层成像　；参考：《眼科》2017年03期

【摘要】：目的了解Bardet-Biedl综合征(Bardet-Biedl syndrome,BBS)患者眼底病变的影像学特点。设计回顾性病例系列。研究对象北京同仁医院诊断的8例BBS患者。方法回顾患者病历资料,分析患者全身情况,采用Sanger测序BBS1-BBS12基因进行基因诊断,并采用眼底彩像、眼底自发荧光(FAF)、频域相干光断层成像(SD-OCT)和增强深度成像(EDI-OCT)对患者眼底病变进行评估。主要指标病变的影像学特征。结果突变筛查确定了6例患者的致病突变分别位于BBS1、BBS2、BBS4和BBS7基因。所有患者均显示视盘蜡黄色萎缩、视网膜血管缩窄、中周部眼底视网膜色素上皮及脉络膜毛细血管层萎缩,且均有不同程度黄斑形态异常。SD-OCT显示不同BBS患者之间黄斑区视网膜形态改变存在较大差异,视网膜退行变类型可分为弥漫性退变、向心性退变和离心性退变三类。EDI-OCT检查显示6例患者(12眼)出现脉络膜毛细血管层薄变甚至消失。结论多种视网膜影像学检查显示BBS患者黄斑区视网膜退行性改变可呈向心性、离心性以及弥漫性退变多种类型。
[Abstract]:Objective to investigate the imaging features of fundus lesions in patients with Bardet-Biedl syndrome (Bardet-Biedl syndromes). Design retrospective case series. Participants eight patients with BBS diagnosed by Tongren Hospital in Beijing were studied. Methods We reviewed the patient's medical records, analyzed the patients' whole body condition, used Sanger sequencing BBS1-BBS12 gene for gene diagnosis, and used fundus color image. Fundus autofluorescence, frequency domain coherent tomography (SD-OCTs) and enhanced depth imaging (EDI-OCTT) were used to evaluate fundus lesions. Main outcome measures Imaging features of lesions. Results the mutation screening confirmed that the mutations were located in BBS1, BBS2, BBS4 and BBS7 genes, respectively. All the patients showed wax-yellow atrophy of optic disc, constriction of retinal vessels, atrophy of retinal pigment epithelium and choroidal capillary layer in middle periocular fundus. SD-Oct showed that there were significant differences in retinal morphologic changes in macular area between patients with different BBS, and the type of retinal degeneration could be classified as diffuse degeneration. EDI-Oct examination showed that choroidal capillary thinning occurred in 6 cases (12 eyes). Conclusion Retinal degenerative changes in macular area of BBS patients can be shown to be concentric, eccentric and diffuse.
【作者单位】：首都医科大学附属北京同仁医院北京同仁眼科中心眼科学与视觉科学北京市重点实验室;
【基金】：北京市医管局青年人才培养“青苗”计划(QML20150205)
【分类号】：R596;R773.4

【相似文献】