PDF(Pubmed)
Abstract：
Neurofibromatosis type 1 (NF 1) is a multisystemic genetic disorder involving aberrant proliferation of multiple tissues of a neural crest origin. It represents a tumor predisposition syndrome characterized by a wide range of clinical manifestations, such as benign tumors, which primarily affect the skin and the nervous system. The most frequent clinical signs of NF 1 include café-au-lait spots all over the surface of the skin and axillary freckling; however, these signs can be accompanied by more severe manifestations such as the growth of both benign and malignant nervous system tumors and skeletal dysplasia, as well as a wide range of ocular manifestations. We report the rare case of retinal microvascular alterations and choroidal nodules in a 15 year old male patient with NF 1, detectable on optical coherence tomography angiography (OCTA). The hyperreflective choroidal nodules modified the profile of the choroidal vasculature. The retinal microvascular alterations in the form of clustered capillaries were detected in the superficial capillary plexus located nasally to the macular region. Retinal vascular abnormalities undetectable on fundus photography or fundoscopy can be present in patients with NF 1. Indirect ophthalmoscopy of our study patient was unremarkable. However, retinal vascular abnormalities were seen on OCTA scans in the superficial capillary plexus and choroidal nodules were detected on raster OCT scans. OCTA represents a useful imaging technique for detecting retinal microvascular abnormalities, which can be considered additional distinctive signs of NF 1.
摘要：
1型神经纤维瘤病（NF1）是一种多系统遗传疾病，涉及神经c起源的多个组织的异常增殖。它代表了一种以广泛的临床表现为特征的肿瘤易感性综合征，如良性肿瘤，主要影响皮肤和神经系统。NF1的最常见的临床症状包括皮肤表面的咖啡色斑点和腋窝雀斑；然而，这些症状可能伴随着更严重的表现，如良性和恶性神经系统肿瘤和骨骼发育不良的生长，以及广泛的眼部表现。我们报告了在15岁男性NF1患者中罕见的视网膜微血管改变和脉络膜结节，在光学相干断层扫描血管造影（OCTA）上可检测到。高反射脉络膜结节改变了脉络膜脉管系统的轮廓。在位于鼻侧黄斑区的浅表毛细血管丛中检测到簇状毛细血管形式的视网膜微血管改变。NF1患者可能存在眼底照相或眼底镜检查无法检测到的视网膜血管异常。我们研究患者的间接检眼镜检查没有异常。然而,OCTA扫描发现浅表毛细血管丛的视网膜血管异常,光栅OCT扫描检测到脉络膜结节.OCTA代表了一种用于检测视网膜微血管异常的有用成像技术，这可以被认为是NF1的额外的独特标志。
