Abstract：
OBJECTIVE: Williams-Beuren syndrome (WBS) is a rare genetic disease characterized by psychomotor delay, cardiovascular, musculoskeletal, and endocrine problems. Retinal involvement, which is not well characterized, has also been described. The purpose of this cross-sectional study is to describe the characteristics in optical coherence tomography (OCT) and OCT-angiography (OCTA) of patients with WBS.
METHODS: We included patients with WBS confirmed by genetic analysis. The patients underwent OCT (30° × 25°, 61 B-scans) and OCTA (10° × 10° and 20° × 20°) examinations, all centered on the. Data on retinal thickness (total, inner and outer layers) and foveal morphology on OCT and vessel and perfusion density in OCTA (VD and PD, respectively) were collected. These data were compared with an age-matched control group.
RESULTS: 22 eyes of 22 patients with WBS (10 females, mean age 31.5 years) were included. Retinal thickness (and specifically inner retinal layers) in OCT was significantly reduced in all sectors (central, parafoveal, and perifoveal) compared to the control group (p < 0.001 in all sectors). Fovea in WBS eyes was broader and shallower than controls. The PD and VD in both 10 and 20 degrees of fields in OCTA was significantly reduced in patients with WBS, in all vascular plexa (all p < 0.001).
CONCLUSIONS: This study is the first to quantify and demonstrate retinal structural and microvascular alterations in patients with WBS. Further studies with longitudinal data will reveal the potential clinical relevance of these alterations.
METHODS: We included patients with WBS confirmed by genetic analysis. The patients underwent OCT (30° × 25°, 61 B-scans) and OCTA (10° × 10° and 20° × 20°) examinations, all centered on the. Data on retinal thickness (total, inner and outer layers) and foveal morphology on OCT and vessel and perfusion density in OCTA (VD and PD, respectively) were collected. These data were compared with an age-matched control group.
RESULTS: 22 eyes of 22 patients with WBS (10 females, mean age 31.5 years) were included. Retinal thickness (and specifically inner retinal layers) in OCT was significantly reduced in all sectors (central, parafoveal, and perifoveal) compared to the control group (p < 0.001 in all sectors). Fovea in WBS eyes was broader and shallower than controls. The PD and VD in both 10 and 20 degrees of fields in OCTA was significantly reduced in patients with WBS, in all vascular plexa (all p < 0.001).
CONCLUSIONS: This study is the first to quantify and demonstrate retinal structural and microvascular alterations in patients with WBS. Further studies with longitudinal data will reveal the potential clinical relevance of these alterations.
摘要：
目的：Williams-Beuren综合征（WBS）是一种罕见的遗传性疾病，以精神运动延迟为特征，心血管,肌肉骨骼，和内分泌问题。视网膜受累,没有很好的表征，也有描述。这项横断面研究的目的是描述WBS患者的光学相干断层扫描（OCT）和OCT血管造影（OCTA）的特征。
方法：我们纳入了遗传分析证实的WBS患者。患者行OCT(30°×25°,61B扫描）和OCTA（10°×10°和20°×20°）检查，一切都集中在。视网膜厚度数据（总计，内层和外层）和OCT上的中央凹形态以及OCTA中的血管和灌注密度（VD和PD，分别)被收集。将这些数据与年龄匹配的对照组进行比较。
结果：22眼WBS患者（10名女性，平均年龄31.5岁)。OCT中的视网膜厚度（特别是视网膜内层）在所有区域（中央，侧腹,和中央凹）与对照组相比（所有部门p<0.001）。WBS眼中的Fovea比对照组更宽，更浅。WBS患者在OCTA的10度和20度视野中的PD和VD均显着降低，在所有血管丛（所有p<0.001）。
结论：这项研究首次量化并证明了WBS患者的视网膜结构和微血管改变。纵向数据的进一步研究将揭示这些改变的潜在临床相关性。
方法：我们纳入了遗传分析证实的WBS患者。患者行OCT(30°×25°,61B扫描）和OCTA（10°×10°和20°×20°）检查，一切都集中在。视网膜厚度数据（总计，内层和外层）和OCT上的中央凹形态以及OCTA中的血管和灌注密度（VD和PD，分别)被收集。将这些数据与年龄匹配的对照组进行比较。
结果：22眼WBS患者（10名女性，平均年龄31.5岁)。OCT中的视网膜厚度（特别是视网膜内层）在所有区域（中央，侧腹,和中央凹）与对照组相比（所有部门p<0.001）。WBS眼中的Fovea比对照组更宽，更浅。WBS患者在OCTA的10度和20度视野中的PD和VD均显着降低，在所有血管丛（所有p<0.001）。
结论：这项研究首次量化并证明了WBS患者的视网膜结构和微血管改变。纵向数据的进一步研究将揭示这些改变的潜在临床相关性。
