Dutescu R M, Dörr J M, Bergholz R
Aachener Centrum für Technologietransfer in der Ophthalmologie (ACTO e. V.), Aachen.
Charité - Universitätsmedizin, NeuroCure Clinical Research Center, Berlin.
Klin Monbl Augenheilkd. 2014 Jan;231(1):66-72. doi: 10.1055/s-0033-1360138. Epub 2014 Jan 17.
Susac syndrome is a vasculopathy affecting the central nervous system, retina and cochlea leading to the triad encephalopathy, branch retinal artery occlusions and hearing loss. To date, about 300 cases have been described in the literature.
PATIENTS/METHODS: Three patients with confirmed Susac syndrome were evaluated for disease-specific retinal pathologies. In addition, the overall history of the disease is presented to put the ophthalmological pathology into context.
All three cases showed a retinal occlusive microangiopathy with branch retinal artery occlusions. MRI imaging revealed snowball-like lesions of the corpus callosum in two of three cases. At the initial presentation not all criteria of the disease-specific triad encephalopathy, branch retinal artery occlusions, and hearing loss were fulfilled in the three patients.
Interdisciplinary collaboration between neurologists, otorhinolaryngologists and ophthalmologists is mandatory to establish the diagnosis of the disease. The occurrence of the characteristic retinal pathology with small artery occlusions and a segmental vasculopathy should always lead to the differential diagnosis of Susac syndrome.
Susac综合征是一种影响中枢神经系统、视网膜和耳蜗的血管病变，可导致脑病、视网膜分支动脉阻塞和听力丧失三联征。迄今为止，文献中已描述了约300例病例。
患者/方法：对3例确诊为Susac综合征的患者进行了疾病特异性视网膜病变评估。此外，还介绍了疾病的整体病史，以便将眼科病理情况纳入背景。
所有3例均表现为视网膜阻塞性微血管病变伴视网膜分支动脉阻塞。磁共振成像显示3例中有2例胼胝体出现雪球样病变。在初次就诊时，3例患者并未满足疾病特异性三联征（脑病、视网膜分支动脉阻塞和听力丧失）的所有标准。
神经科医生、耳鼻喉科医生和眼科医生之间的跨学科合作对于确立该疾病的诊断至关重要。出现伴有小动脉阻塞的特征性视网膜病变和节段性血管病变时，应始终考虑Susac综合征的鉴别诊断。
