Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Łódź, Łódź, Poland.
Department of Ophthalmology and Vision Rehabilitation, Medical University of Łódź, Łódź, Poland.
Dev Med Child Neurol. 2019 Mar;61(3):359-365. doi: 10.1111/dmcn.14040. Epub 2018 Sep 23.
The aim of this study was to assess parameters of retinal morphology by using high-definition optical coherence tomography (OCT) in patients with Wolfram syndrome (WFS) and their relation to optic tract atrophy in magnetic resonance imaging (MRI).
High-definition OCT and MRI parameters were evaluated in 12 patients with WFS (three males, nine females; median age at examination 12y 8mo, range 10y 2mo-15y 11mo) and referred to 30 individuals with type 1 diabetes (T1D) (12 males, 18 females; median age at examination 20y 5mo, range 16y 8mo-21y 4mo) and 33 typically developing comparison participants (10 males, 23 females; median age at examination 20y 7mo, range 13y-22y 4mo).
Total thickness and quadrant thickness of the retinal nerve fibre layer (RNFL), macular full-thickness parameters and macular ganglion cell layer/inner plexiform layer, intraorbital and intracranial thickness of the optical nerve, as well as the optic chiasm and visual tracts were significantly reduced in patients with WFS compared with those having T1D and the typically developing comparison participants. Optic chiasm thickness correlated negatively in patients with WFS with both age (r=-0.79; p=0.002) and duration of diabetes (r=-0.62; p=0.032). Thickness of the intraorbital parts of the optic nerves in patients with WFS correlated positively with thickness of the superior RNFL (r=0.73; p=0.006).
High-definition OCT in combination with MRI could become an important tool for evaluating the effectiveness of therapeutic trials in patients with WFS.
Provides evidence of significant reduction of retinal parameters and optic nerves in patients with Wolfram syndrome (WFS). Shows correlations between magnetic resonance imaging parameters and retinal morphology parameters in patients with WFS.
本研究旨在通过使用高清光学相干断层扫描（OCT）评估 WFS 患者的视网膜形态学参数，并将其与磁共振成像（MRI）中的视束萎缩相关联。
评估了 12 例 WFS 患者（3 名男性，9 名女性；中位检查年龄 12 岁 8 个月，范围 10 岁 2 个月-15 岁 11 个月）和 30 名 1 型糖尿病（T1D）患者（12 名男性，18 名女性；中位检查年龄 20 岁 5 个月，范围 16 岁 8 个月-21 岁 4 个月）以及 33 名正常发育的对照组参与者（10 名男性，23 名女性；中位检查年龄 20 岁 7 个月，范围 13 岁-22 岁 4 个月）的高清 OCT 和 MRI 参数。
与 T1D 患者和正常发育的对照组参与者相比，WFS 患者的视网膜神经纤维层（RNFL）总厚度和象限厚度、黄斑全层参数和黄斑神经节细胞层/内丛状层、视神经眶内和颅内厚度以及视交叉和视束均显著降低。WFS 患者的视交叉厚度与年龄（r=-0.79；p=0.002）和糖尿病病程（r=-0.62；p=0.032）呈负相关。WFS 患者眶内视神经部分的厚度与上方 RNFL 的厚度呈正相关（r=0.73；p=0.006）。
高清 OCT 结合 MRI 可能成为评估 WFS 患者治疗试验效果的重要工具。
为 WFS 患者提供了视网膜参数和视神经显著降低的证据。显示了 WFS 患者 MRI 参数与视网膜形态学参数之间的相关性。
