PURPOSE To analyze ocular biometric parameters alterations of the posterior pole and choroidal abnormalities in patients with neurofibromatosis type 1 (NF1) by adopting multimodal imaging, especially focusing on the role of novel diagnostic devices like swept-source optical coherence tomography angiography (SS-OCTA). METHODS In this prospective, case-controlled study, patients with NF1 and age-matched control subjects were quantitatively analyzed by using multimodal imaging. All the subjects underwent confocal scanning laser ophthalmoscopy (SLO), SS-OCT and SS-OCTA examinations. RESULTS SS-OCT analysis revealed a lower macular retinal nerve fiber layer (RNFL) thickness in patients with NF1 compared with those with suspected NF1 (95.0±15.9 vs 109.7±11.3 μm; P = 0.001) and control subjects (106.8±14.4 μm, P = 0.003). Retinal thickness was significantly lower in NF1 patients compared to those with suspected NF1 (280.7±23.0 vs 304.2±15.3 μm; P < 0.001) and control subjects (298.7±23.8 μm, P = 0.003). The mean vascular flow area of the SCP was significantly higher in patients with NF1 (42.6±2.2%) and suspected NF1 (43.1±2.5%) compared to control subjects (41.0±2.0%; respectively, P = 0.017 and P = 0.002). In the second choroidal layer, the flow area was significantly lower in patients with NF1 compared to control subjects (45.4±4.8 vs 49.0±4.0%,; P = 0.011). CONCLUSIONS Retinal thicknesses alterations and choroidal nodules are described as ocular manifestations in patients with NF1. In addition, OCTA could represent an important novel advanced imaging technique, capable of detecting early altered retinal and choroidal vascular flow area in patients with NF1.

中文翻译：

---

通过 OCT-A 评估的 1 型神经纤维瘤病患者的眼部生物特征参数变化和脉络膜血管异常。

目的通过采用多模态成像分析 1 型神经纤维瘤病 (NF1) 患者后极和脉络膜异常的眼部生物特征参数变化，特别关注扫描源光学相干断层扫描血管造影 (SS-OCTA) 等新型诊断设备的作用. 方法 在这项前瞻性病例对照研究中，使用多模态成像对 NF1 患者和年龄匹配的对照受试者进行定量分析。所有受试者均接受共聚焦扫描激光检眼镜 (SLO)、SS-OCT 和 SS-OCTA 检查。结果 SS-OCT 分析显示 NF1 患者黄斑部视网膜神经纤维层 (RNFL) 厚度低于疑似 NF1 患者（95.0±15.9 vs 109.7±11.3 μm；P = 0.001）和对照受试者（106.8±14.4 μm， P = 0.003）。与疑似 NF1 患者（280.7±23.0 vs 304.2±15.3 μm；P < 0.001）和对照受试者（298.7±23.8 μm，P = 0.003）相比，NF1 患者的视网膜厚度显着降低。与对照组（41.0±2.0%；分别为 P = 0.017 和 P = 0.002）相比，NF1 (42.6±2.2%) 和疑似 NF1 (43.1±2.5%) 患者的 SCP 平均血管流动面积显着更高. 在第二脉络膜层中，与对照组相比，NF1 患者的流动面积显着降低（45.4±4.8 对 49.0±4.0%；P = 0.011）。结论 视网膜厚度改变和脉络膜结节被描述为 NF1 患者的眼部表现。此外，OCTA 可以代表一种重要的新型先进成像技术，能够检测 NF1 患者早期改变的视网膜和脉络膜血管流动区域。