Han Ian C, Whitmore S Scott, Critser D Brice, Lee Sun Young, DeLuca Adam P, Daggett Heather T, Affatigato Louisa M, Mullins Robert F, Tucker Budd A, Drack Arlene V, Stone Edwin M
University of Iowa Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, Iowa City, Iowa.
University of Iowa Institute for Vision Research, Department of Ophthalmology and Visual Sciences, Carver College of Medicine, Iowa City, Iowa.
Ophthalmol Retina. 2019 Feb;3(2):178-185. doi: 10.1016/j.oret.2018.09.006. Epub 2018 Sep 19.
Retinal vascular and structural changes, particularly outside of the central macula, are not well characterized in X-linked retinoschisis (XLRS). We aim to describe wide-field swept-source OCT (SS-OCT) and swept-source OCT angiography (SS-OCTA) findings in XLRS.
Retrospective, cross-sectional study at a tertiary referral center.
Nine consecutive male patients with molecularly confirmed XLRS.
All patients underwent complete ophthalmic examination with multimodal imaging, including SS-OCT with SS-OCTA (PLEX Elite 9000; Carl-Zeiss Meditec Inc., Dublin, CA). Images were then reviewed by 2 retinal specialists as independent graders to determine the frequency and distribution of retinal structural and vascular abnormalities.
Structural and vascular abnormalities seen on SS-OCT and SS-OCTA in patients with XLRS, with attention to the retinal layers involved, the regional distribution of schitic spaces in the posterior pole, and vascular abnormalities within the superficial and deep capillary plexuses.
Eighteen eyes from 9 male patients (mean age, 20 years; range 9-40) with molecularly confirmed XLRS were included. Median best-corrected visual acuity measured 20/63 (range, 20/25-10/300). A total of 17 of 18 eyes (94.4%) were noted to have schitic spaces on SS-OCT, and these were observed to be predominantly within the inner nuclear layer in all 17 eyes. A regional variation in the distribution of cysts was noted, with schitic spaces within the ganglion cell layer (13/17 eyes; 76.5%) observed to be perifoveal and those within the outer nuclear layer (8/17 eyes, 47.1%) observed to be mostly extramacular. All eyes had vascular abnormalities on SS-OCTA, including an irregular foveal avascular zone and flow loss within the deep capillary plexus corresponding to the distribution of the schisis.
Wide-field SS-OCT and SS-OCTA provide detailed visualization of structural and vascular changes in XLRS and may be helpful for monitoring disease progression or treatment response in clinical trials for the disease.
视网膜血管和结构变化，尤其是黄斑中心以外的变化，在X连锁视网膜劈裂症（XLRS）中尚未得到充分描述。我们旨在描述XLRS患者的广角扫频源光学相干断层扫描（SS-OCT）和扫频源光学相干断层扫描血管造影（SS-OCTA）的结果。
在一家三级转诊中心进行的回顾性横断面研究。
9例经分子确诊的XLRS男性患者。
所有患者均接受了包括SS-OCT及SS-OCTA（PLEX Elite 9000；卡尔蔡司医疗技术公司，加利福尼亚州都柏林）在内的多模态成像的完整眼科检查。然后由2名视网膜专科医生作为独立分级者对图像进行评估，以确定视网膜结构和血管异常的频率及分布情况。
XLRS患者SS-OCT和SS-OCTA上观察到的结构和血管异常，关注受累的视网膜层、后极部劈裂间隙的区域分布以及浅表和深部毛细血管丛内的血管异常。
纳入9例经分子确诊的XLRS男性患者的18只眼（平均年龄20岁；范围9 - 40岁）。最佳矫正视力中位数为20/63（范围20/25 - 10/300）。18只眼中共有17只眼（94.4%）在SS-OCT上发现有劈裂间隙，且在所有17只眼中均观察到主要位于内核层。观察到囊肿分布存在区域差异，神经节细胞层内的劈裂间隙（13/17只眼；76.5%）见于黄斑周围，而外核层内的劈裂间隙（8/17只眼，47.1%）大多见于黄斑外区域。所有眼在SS-OCTA上均有血管异常，包括不规则的黄斑无血管区以及与劈裂分布相对应的深部毛细血管丛内的血流缺失。
广角SS-OCT和SS-OCTA可详细显示XLRS的结构和血管变化，可能有助于在该疾病的临床试验中监测疾病进展或治疗反应。
