Moon Stephanie S, Ovens Christopher A, Reid Gerard, Fraser Clare L
Concord Clinical School, The University of Sydney, Sydney, Australia.
Save Sight Institute, Faculty of Health and Medicine, The University of Sydney, Sydney, Australia.
Neuroophthalmology. 2024 Jan 26;48(3):198-203. doi: 10.1080/01658107.2024.2301921. eCollection 2024.
Fabry disease (FD) is a rare, X-linked lysosomal storage disorder that can result in fatal end-stage renal disease, heart failure, and cerebro-occlusive events. Vague clinical symptoms and rarity often mean diagnosis and potential treatment is delayed. Ophthalmic findings in FD patients can be helpful in establishing an early diagnosis and timely treatment. Spectral domain optical coherence tomography (SD-OCT) imaging in FD patients shows hyper-reflective foci (HRF) in characteristic patterns within the inner retinal layers. We found that the HRF was localised in linear distributions at the deep and superficial borders of the retinal inner nuclear layer, likely reflecting anatomic vascular plexuses and FD-related sphingolipid deposition within the vessel walls. These results highlight the potential use of SD-OCT in FD and how it may aid diagnosis in undifferentiated patients, prognostication, and disease monitoring.
法布里病（FD）是一种罕见的X连锁溶酶体贮积症，可导致致命的终末期肾病、心力衰竭和脑血管闭塞事件。模糊的临床症状和罕见性往往意味着诊断和潜在治疗的延迟。FD患者的眼科检查结果有助于早期诊断和及时治疗。FD患者的光谱域光学相干断层扫描（SD-OCT）成像显示视网膜内层有特征性模式的高反射灶（HRF）。我们发现HRF呈线性分布于视网膜内核层的深部和浅部边界，可能反映了解剖学血管丛以及血管壁内与FD相关的鞘脂沉积。这些结果突出了SD-OCT在FD中的潜在用途，以及它如何有助于未分化患者的诊断、预后评估和疾病监测。
