Cassiman Catherine, Casteels Ingele, Stalmans Peter, Legius Eric, Jacob Julie
aDepartment of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
bDepartment of Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Case Rep Ophthalmol. 2017 Apr 10;8(1):214-220. doi: 10.1159/000469702. eCollection 2017 Jan-Apr.
To report 3 cases of neurofibromatosis type 1 (NF1) with choroidal nodules associated with retinal microvascular changes imaged with optical coherence tomography angiography (OCTA).
Small case series in 3 NF1 patients. OCTA examinations were performed by a trained examiner (J.J.) after pupillary dilation. A standard scan, centered over the macula measuring 6 × 6 mm and 3 × 3 mm was obtained according to the findings on standard color photography. Additional scans were obtained in the zones with microvascular abnormalities. The segmentation provided by the machine software was used.
Corkscrew retinal vessels were observed in association with "placoid"-type choroidal nodules as shown by near-infrared reflectance imaging. In all cases, multiple lesions were found. They were second- or third-order tortuous vessels originating from the superior or inferior temporal veins. OCTA demonstrated that the tortuous venules were located in the superficial capillary plexus, and no abnormalities were found in the deep capillary plexus.
Corkscrew retinal vessels are part of a spectrum of retinal microvascular alterations seen in association, sometimes overlying choroidal nodules in patients with NF1 and are visualized in the superficial capillary plexus on OCTA. We demonstrated with OCTA that they are not associated with flow loss or ischemia in the superficial and deep capillary plexus. The link between the underlying nodule remains unclear. Since neovascularization was described in choroidal ganglioneuroma, we hypothesize that corresponding secretory substances from Schwann cells, ganglion cells, or melanocytes in choroidal nodules might alter the retinal vasculature.
We report on 3 cases of NF1 with choroidal nodules in association with retinal microvascular changes imaged with OCTA. OCTA demonstrated preservation of the blood flow in the deep and superficial capillary plexus of the retina. We hypothesize that angiogenic factors secreted by the underlying choroidal nodules could have an effect on the retinal vasculature. Further immunohistological studies in NF1 patients with choroidal nodules to detect angiogenic factors (such as VEGF) are necessary to confirm this hypothesis.
报告3例1型神经纤维瘤病（NF1）患者，其脉络膜结节伴有视网膜微血管改变，并通过光学相干断层扫描血管造影（OCTA）成像。
对3例NF1患者进行小病例系列研究。由经过培训的检查者（J.J.）在瞳孔散大后进行OCTA检查。根据标准彩色照片的结果，获取以黄斑为中心、尺寸为6×6mm和3×3mm的标准扫描图像。在微血管异常区域进行额外扫描。使用机器软件提供的分割方法。
近红外反射成像显示，“类扁平状”脉络膜结节伴有视网膜螺旋状血管。所有病例均发现多个病变。它们是起源于颞上或颞下静脉的二级或三级迂曲血管。OCTA显示，迂曲的小静脉位于浅表毛细血管丛中，而深层毛细血管丛未发现异常。
视网膜螺旋状血管是NF1患者视网膜微血管改变谱的一部分，有时与脉络膜结节重叠，并且在OCTA上可在浅表毛细血管丛中显示。我们通过OCTA证明，它们与浅表和深层毛细血管丛中的血流损失或缺血无关。潜在结节之间的联系仍不清楚。由于脉络膜神经节细胞瘤中描述了新生血管形成，我们推测脉络膜结节中的施万细胞、神经节细胞或黑素细胞分泌的相应分泌物质可能会改变视网膜血管系统。
我们报告了3例NF1患者，其脉络膜结节伴有通过OCTA成像的视网膜微血管改变。OCTA显示视网膜深层和浅表毛细血管丛中的血流得以保留。我们推测，潜在脉络膜结节分泌的血管生成因子可能对视网膜血管系统有影响。有必要对患有脉络膜结节的NF1患者进行进一步的免疫组织学研究，以检测血管生成因子（如VEGF），以证实这一假设。
