Abstract：
Neurofibromatosis type 1 (NF1) is one of the central nervous system\'s most common autosomal dominant conditions. The diagnosis is based on the clinical diagnostic criteria and/or a molecularly confirmed mutation in the NF1 gene. This study investigated the possibility of substantiating choroidal nodules as a diagnostic criterion for the disease, including patients affected with and without high myopia. A cross-sectional study was carried out in 60 eyes of 30 adult patients diagnosed with NF1. A total of 30 healthy individuals of equivalent age and sex served as control. The Spectralis HRA+OCT MultiColor (Heidelberg Engineering GmbH, Heidelberg, Germany) evaluated the presence of choroidal abnormalities with near-infrared reflectance imaging. Secondly, the presence of iridian Lisch nodules was evaluated by slit lamp examination. Near-infrared reflectance imaging showed the presence of choroidal hyperreflective nodules in 83% of the patients diagnosed with NF1, while these choroidal abnormalities were not observed in any control subject. The patients diagnosed with NF1 associated with high myopia were the only ones who did not present the characteristic choroidal disorders. Therefore, when excluding patients diagnosed with high myopia, choroidal nodules were more frequent than Lisch nodules in a statistically significant proportion. Hyperreflective nodules detected by near-infrared reflectance imaging are as regular as Lisch nodules or even significantly more frequent when excluding high myope patients. Our observation of the mutual exclusion of choroidal hyperreflective nodules and high myopia in the NF1 patients seems a novel and interesting remark.
摘要：
1型神经纤维瘤病（NF1）是中枢神经系统最常见的常染色体显性疾病之一。诊断基于临床诊断标准和/或NF1基因中的分子确认突变。这项研究调查了证实脉络膜结节作为该疾病的诊断标准的可能性，包括患有和不患有高度近视的患者。对30名诊断为NF1的成年患者的60只眼进行了横断面研究。共有30名年龄和性别相等的健康个体作为对照。TheSpectralisHRA+OCTMultiColor(HeidelbergEngineeringGmbH,海德堡,德国）用近红外反射成像评估脉络膜异常的存在。其次,通过裂隙灯检查评估iridianLisch结节的存在.近红外反射成像显示83％的被诊断为NF1的患者存在脉络膜超反射结节，而在任何对照受试者中均未观察到这些脉络膜异常。诊断为NF1与高度近视相关的患者是唯一没有出现特征性脉络膜疾病的患者。因此,当排除被诊断为高度近视的患者时，脉络膜结节比Lisch结节更常见，具有统计学意义。通过近红外反射成像检测到的高反射结节与Lisch结节一样规则，或者在排除高近视患者时甚至更频繁。我们对NF1患者脉络膜高反射结节和高度近视的相互排斥的观察似乎是一个新颖而有趣的评论。
