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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。
Objective To understand the imaging features of fundus lesions in patients with Bardet-Biedl syndrome (BBS). Design retrospective case series. Study object Beijing Tongren Hospital diagnosis of 8 cases of BBS patients. Methods The clinical data of patients were reviewed. The systemic condition of the patients was analyzed. Gene sequencing was performed with Sanger sequencing BBS1-BBS12 gene. Fundus images, autofluorescence (FAF), frequency domain coherent light tomography (SD-OCT) and enhanced depth imaging (EDI-OCT) in patients with fundus lesions were evaluated. The main indicators of lesions of the imaging features. Results The mutation screening identified 6 pathogenic mutations in BBS1, BBS2, BBS4 and BBS7 genes respectively. All patients showed yellow wax optic disc atrophy, retinal vascular narrowing, the fundus peripheral retinal pigment epithelium and choriocapillaris atrophy, and have varying degrees of macular degeneration. SD-OCT showed different morphological changes of macular retina between different BBS patients, retinal degeneration can be divided into diffuse degeneration, concentric degeneration and eccentric degeneration. EDI-OCT examination showed that in 6 patients (12 eyes), the choriocapillaris became thin or even disappeared. Conclusion A variety of retinal imaging studies have shown that retinal degenerative changes in macular area in patients with BBS may show multiple types of concentricity, eccentricity and diffuse degeneration.