■X连锁遗传性视网膜疾病(IRD)的女性携带者可以表现出高度可变的表型和疾病进展。血管反应性,潜在的疾病生物标志物,尚未对女性IRD携带者进行调查。在这项研究中,使用功能性光学相干断层扫描血管造影(OCT-A)动态评估X连锁IRD携带者的视网膜微血管.
■经遗传证实的女性IRD携带者(脉络膜血症或X连锁色素性视网膜炎),并招募健康女性。黄斑血管造影(3x3mm,ZeissPlexElite9000)在15名X连锁IRD女性携带者和21名年龄匹配的对照女性的36眼中获得。两种测试用于测试血管反应性:(i)轻度缺氧和(ii)手握测试,诱导血管舒张或血管收缩反应,分别。在每个测试过程中,分别评估浅层和深层毛细血管丛的血管密度(VD)和血管长度密度(VLD)的变化。
■在对照组中,在握力试验中,表面和深层VD降低(分别为p<0.001和p=0.037)。平均表面VLD在握力测试期间也下降(p=0.025),而深神经丛没有显着变化(p=0.108)。在缺氧期间,VD和VLD在深丛中增加(分别为p=0.027和p=0.052),但在浅丛中没有增加。在承运人中,在任一测试期间,在对照中观察到的生理血管反应均未在任一丛中观察到,VD或VLD无差异(均p>0.05)。
■功能性OCT-A是评估动态视网膜微血管变化的有用工具。在X连锁IRD的携带者中看到的生理血管反应的亚临床损害可以作为有价值的临床生物标志物。
UNASSIGNED: Female carriers of X-linked inherited retinal diseases (IRDs) can show highly variable phenotypes and disease progression. Vascular reactivity, a potential disease biomarker, has not been investigated in female IRD carriers. In this study, functional optical coherence tomography angiography (OCT-A) was used to dynamically assess the retinal microvasculature of X-linked IRD carriers.
UNASSIGNED: Genetically confirmed female carriers of IRDs (choroideremia or X-linked retinitis pigmentosa), and healthy women were recruited. Macular angiograms (3x3mm, Zeiss Plex Elite 9000) were obtained in 36 eyes of 15 X-linked IRD female carriers and 21 age-matched control women. Two tests were applied to test vascular reactivity: (i) mild hypoxia and (ii) handgrip test, to induce a vasodilatory or vasoconstrictive response, respectively. Changes to vessel density (VD) and vessel length density (VLD) were independently evaluated during each of the tests for both the superficial and deep capillary plexuses.
UNASSIGNED: In the control group, the superficial and deep VD decreased during the handgrip test (p<0.001 and p=0.037, respectively). Mean superficial VLD also decreased during the handgrip test (p=0.025), while the deep plexus did not change significantly (p=0.108). During hypoxia, VD and VLD increased in the deep plexus (p=0.027 and p=0.052, respectively) but not in the superficial plexus. In carriers, the physiologic vascular responses seen in controls were not observed in either plexus during either test, with no difference in VD or VLD noted (all p>0.05).
UNASSIGNED: Functional OCT-A is a useful tool to assess dynamic retinal microvascular changes. Subclinical impairment of the physiological vascular responses seen in carriers of X-linked IRDs may serve as a valuable clinical biomarker.