Mitchell Jamie, Threlfall Adam, Sloan Kenneth, Smyth Luke, Beresford-Webb Jessica, Walpert Madeleine J, Peto Tunde, MacGillivray Tom, Holland Antony, Lengyel Imre, Csincsik Lajos
Wellcome-Wolfson Institute for Experimental Medicine, School of Medicine Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, UK.
Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Alzheimers Dement. 2025 May;21(5):e70228. doi: 10.1002/alz.70228.
Retinal and choroidal vascular changes have been proposed as a non-invasive central nervous system (CNS) proxy for clinical trials in Alzheimer's disease (AD). However, their role in Down syndrome (DS), the largest genetically predisposed group for AD, remains unclear.
We conducted ultra-widefield and optical coherence tomography imaging on 24 individuals with DS and 17 controls and extracted various vascular parameters. Data were analyzed using logistic and linear regression models.
The DS retinae exhibited supernumerary vessels that were wider and thinned more rapidly along their paths (p = 0.01). There was a more complex central retinal (p = 0.047) and a less complex peripheral retinal vascular tree (p = 0.001), with increased numbers of peripheral microvascular abnormalities (p = 0.038) and reduced choroid vascularity index in DS (p < 0.001).
We found that retinal and choroidal vascular changes are present in DS adults before the clinical onset of AD and might become early surrogates for cerebral vascular abnormalities.
Eye imaging in DS showed retinal and choroidal changes seen in AD. Far peripheral retinal microaneurysms and hemorrhages associated to DS. Wider and faster thinning vessels associated to DS. Reduced vascular tree complexity in the peripheral retina linked to DS. Lower choroidal vascularity associated with DS.
视网膜和脉络膜血管变化已被提议作为阿尔茨海默病（AD）临床试验的一种非侵入性中枢神经系统（CNS）替代指标。然而，它们在唐氏综合征（DS）这一最大的AD遗传易患群体中的作用仍不清楚。
我们对24名DS患者和17名对照者进行了超广角和光学相干断层扫描成像，并提取了各种血管参数。使用逻辑回归和线性回归模型对数据进行分析。
DS患者的视网膜显示出多余的血管，这些血管更宽且沿其路径变薄更快（p = 0.01）。中央视网膜更复杂（p = 0.047），周边视网膜血管树则较不复杂（p = 0.001），DS患者周边微血管异常数量增加（p = 0.038），脉络膜血管指数降低（p < 0.001）。
我们发现，在AD临床发病之前，DS成年人就存在视网膜和脉络膜血管变化，这些变化可能成为脑血管异常的早期替代指标。
DS患者的眼部成像显示出AD中可见的视网膜和脉络膜变化。DS患者存在远周边视网膜微动脉瘤和出血。DS患者的血管更宽且变薄更快。DS患者周边视网膜血管树复杂性降低。DS患者脉络膜血管性降低。
