Liu Tianyu, Chebolu Apoorv P, Chung Caroline W, Kruszewski Adam M, Bhatt Nirali, Brucker Alexander J
Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania; and.
Division of Neuro-Ophthalmology, Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
Retin Cases Brief Rep. 2025 Mar 1;19(2):182-186. doi: 10.1097/ICB.0000000000001523.
The aim of this study was to report a case of bilateral uveitis, retinal periphlebitis, and optic neuritis associated with a non-pineal central nervous system germinoma.
This is a case report.
A 32-year-old man presented with episodes of acute painless visual disturbance in each eye and was found to have decreased VA, abnormal color vision, an afferent pupillary defect in the left eye, bilateral optic disc edema, perivenous sheathing, and candle-wax dripping exudates. Optical coherence tomography revealed bilateral intraretinal fluid and posterior vitreous hyperreflective opacities. Fluorescein angiography revealed bilateral optic disc leakage without active small vessel leakage. Magnetic resonance imaging of the brain and orbits revealed enhancing periventricular lesions and enhancement of the left optic nerve and bilateral perioptic nerve sheaths, posterior globes, and optic nerve heads. Brain biopsy was consistent with a central nervous system germinoma. His ocular signs and symptoms improved with chemotherapy for the germinoma.
Central nervous system germinomas, including those located outside the pineal region, can be associated with optic neuritis, uveitis, and periphlebitis including characteristic candle-wax dripping exudates. Ocular signs and symptoms typically improve with treatment of the underlying germinoma.
本研究旨在报告一例与非松果体区中枢神经系统生殖细胞瘤相关的双侧葡萄膜炎、视网膜静脉周围炎和视神经炎病例。
这是一例病例报告。
一名32岁男性出现双眼急性无痛性视力障碍发作，检查发现视力下降、色觉异常、左眼传入性瞳孔障碍、双侧视盘水肿、静脉周围鞘膜形成以及蜡滴样渗出物。光学相干断层扫描显示双侧视网膜内积液和玻璃体后高反射性混浊。荧光素血管造影显示双侧视盘渗漏，无活动性小血管渗漏。脑部和眼眶的磁共振成像显示脑室周围病变强化，左侧视神经、双侧视神经鞘、眼球后部和视神经乳头强化。脑活检结果符合中枢神经系统生殖细胞瘤。其眼部体征和症状在针对生殖细胞瘤的化疗后有所改善。
中枢神经系统生殖细胞瘤，包括位于松果体区以外的肿瘤，可与视神经炎、葡萄膜炎和静脉周围炎相关，包括特征性的蜡滴样渗出物。眼部体征和症状通常在治疗潜在的生殖细胞瘤后改善。
