Akiyama Yuki, Muraoka Yuki, Kogo Takahiro, Hata Masayuki, Tsujikawa Akitaka
Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Heliyon. 2024 Jul 20;10(14):e34872. doi: 10.1016/j.heliyon.2024.e34872. eCollection 2024 Jul 30.
Wyburn-Mason syndrome is an extremely rare disorder with a limited number of reported cases. Its underlying pathology is poorly understood. This case report focuses on a 41-year-old woman presenting with visual impairments and retinal arteriovenous malformations, highlighting the critical role of multimodal imaging in diagnosing this complex condition. Through the application of fluorescein angiography, optical coherence tomography (OCT) angiography, and OCT B-scan, this study provides vital insights into the vascular anomalies associated with Wyburn-Mason syndrome. These findings enhance our understanding of the ophthalmologic features of Wyburn-Mason syndrome and highlight the importance of detailed diagnostic processes.
怀伯恩 - 梅森综合征是一种极为罕见的疾病,报告病例数量有限。其潜在病理机制尚不清楚。本病例报告聚焦于一名41岁患有视力障碍和视网膜动静脉畸形的女性,强调了多模态成像在诊断这种复杂病症中的关键作用。通过应用荧光素血管造影、光学相干断层扫描(OCT)血管造影和OCT B超扫描,本研究为与怀伯恩 - 梅森综合征相关的血管异常提供了重要见解。这些发现增进了我们对怀伯恩 - 梅森综合征眼科特征的理解,并突出了详细诊断过程的重要性。