Cohen Devin C, Naeem Fawaz, Will Daniel, Egan Robert A, Tamhankar Madhura A
Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA, United States.
Department of Ophthalmology, Abington Jefferson Hospital, Abington, PA, United States.
Am J Ophthalmol Case Rep. 2024 Jun 21;36:102088. doi: 10.1016/j.ajoc.2024.102088. eCollection 2024 Dec.
To describe a patient with a unique retinal phenotype of probable Susac syndrome.
A 47-year-old female who presented with bilateral tinnitus and vision changes was found to have bilateral sensorineural hearing loss and many bilateral retinal arteriolar Gass plaques. She had bilateral scotomas corresponding with temporal thinning and atrophy of the inner nuclear layer (INL) on OCT. Retinal examination and fluorescein angiography demonstrated minimal arteriolar wall hyperfluorescence with no evidence of acute branch retinal artery occlusion. She developed daily headaches. MRI of the brain was normal with no corpus callosal lesions. She was diagnosed with probable Susac syndrome based on the above findings.
Our patient's bilateral high frequency sensorineural hearing loss, numerous bilateral Gass plaques, and headaches are most likely attributable to Susac syndrome. While BRAO is considered a cornerstone of retinal involvement in Susac syndrome, it may only be appreciable angiographically in the acute setting, and it is important to recognize Gass plaques as a significant diagnostic marker of disease.
描述一名具有可能的Susac综合征独特视网膜表型的患者。
一名47岁女性，出现双侧耳鸣和视力变化，被发现患有双侧感音神经性听力损失以及许多双侧视网膜小动脉加斯斑。光学相干断层扫描（OCT）显示她双侧存在与颞侧内核层（INL）变薄和萎缩相对应的暗点。视网膜检查和荧光素血管造影显示小动脉壁荧光增强不明显，无急性视网膜分支动脉阻塞的证据。她出现了每日头痛。脑部磁共振成像（MRI）正常，无胼胝体病变。基于上述发现，她被诊断为可能的Susac综合征。
我们患者的双侧高频感音神经性听力损失、众多双侧加斯斑和头痛很可能归因于Susac综合征。虽然视网膜分支动脉阻塞（BRAO）被认为是Susac综合征视网膜受累的基石，但它可能仅在急性期血管造影时才可察觉，并且将加斯斑识别为该疾病的重要诊断标志物很重要。
