NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
PLoS One. 2012;7(6):e38741. doi: 10.1371/journal.pone.0038741. Epub 2012 Jun 11.
Susac syndrome, a rare but probably underdiagnosed combination of encephalopathy, hearing loss, and visual deficits due to branch retinal artery occlusion of unknown aetiology has to be considered as differential diagnosis in various conditions. Particularly, differentiation from multiple sclerosis is often challenging since both clinical presentation and diagnostic findings may overlap. Optical coherence tomography is a powerful and easy to perform diagnostic tool to analyse the morphological integrity of retinal structures and is increasingly established to depict characteristic patterns of retinal pathology in multiple sclerosis. Against this background we hypothesised that differential patterns of retinal pathology facilitate a reliable differentiation between Susac syndrome and multiple sclerosis. In this multicenter cross-sectional observational study optical coherence tomography was performed in nine patients with a definite diagnosis of Susac syndrome. Data were compared with age-, sex-, and disease duration-matched relapsing remitting multiple sclerosis patients with and without a history of optic neuritis, and with healthy controls. Using generalised estimating equation models, Susac patients showed a significant reduction in either or both retinal nerve fibre layer thickness and total macular volume in comparison to both healthy controls and relapsing remitting multiple sclerosis patients. However, in contrast to the multiple sclerosis patients this reduction was not distributed over the entire scanning area but showed a distinct sectorial loss especially in the macular measurements. We therefore conclude that patients with Susac syndrome show distinct abnormalities in optical coherence tomography in comparison to multiple sclerosis patients. These findings recommend optical coherence tomography as a promising tool for differentiating Susac syndrome from MS.
舒塞综合征是一种罕见但可能被低估的疾病，其特征为脑病、听力损失和视觉缺陷，病因不明，视网膜小动脉分支阻塞是其主要发病机制。在多种情况下，舒塞综合征都需要被考虑为鉴别诊断。特别是，由于临床表现和诊断结果可能重叠，与多发性硬化症的鉴别通常具有挑战性。光学相干断层扫描（OCT）是一种强大且易于操作的诊断工具，可用于分析视网膜结构的形态完整性，并越来越多地用于描绘多发性硬化症的特征性视网膜病理学模式。基于此，我们假设视网膜病理学的差异模式有助于舒塞综合征和多发性硬化症的可靠鉴别。在这项多中心横断面观察性研究中，对 9 名确诊为舒塞综合征的患者进行了 OCT 检查。将数据与年龄、性别和疾病持续时间匹配的有或无视神经炎病史的复发缓解型多发性硬化症患者以及健康对照者进行了比较。使用广义估计方程模型，与健康对照组和复发缓解型多发性硬化症患者相比，舒塞患者的视网膜神经纤维层厚度和全黄斑体积均显著降低。然而，与多发性硬化症患者不同的是，这种减少并不是分布在整个扫描区域，而是表现出明显的扇形损失，特别是在黄斑测量中。因此，我们得出结论，与多发性硬化症患者相比，舒塞综合征患者的 OCT 检查存在明显异常。这些发现表明 OCT 可能是一种有前途的鉴别舒塞综合征和多发性硬化症的工具。
