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Abstract：
UNASSIGNED: Neurofibromatosis type 1 (NF type 1) is an autosomal dominant disease with typical clinical manifestations, such as skin lesions, Lisch nodules, optic pathway gliomas, and neurofibromas, caused by the mutation of the NF1 gene. Visual evoked potentials (VEP) present a measure of the electrophysiological response of visual cortex to a visual stimulus. The role of VEP in the pathophysiology of NF type 1 is very complex and requires additional research.
UNASSIGNED: We examined the differences between NF type 1 patients with normal and altered VEP and analyzed the correlation between the prolongation of P100 latency and disease severity.
UNASSIGNED: Two groups were formed: a control group and a study group with NF type 1 patients. Based on the control group analysis, a threshold value for a normal VEP finding of 116 ms was obtained, and it was used to divide the study group into subgroups with normal and altered VEP. We proceeded with examining the differences in clinical manifestations of the disease between the subgroups, after which we checked if there is a correlation between the prolongation of the P100 latency and the severity of the clinical picture according to the Riccardi scale. Statistical analysis was performed using the Pearson chi-square test and the Spearman correlation test in the program SPSS 28.0, with levels of statistical significance p = 0.05 and p = 0.001.
UNASSIGNED: In the group with the abnormal VEP we found a statistically significant more frequent occurrence of optic tract glioma (p = 0.008), tumors (p = 0.032), epilepsy (p = 0.043), and cognitive disorders (p = 0.028), while the other clinical signs had an equal prevalence in both groups. A moderately strong correlation (r s = 0.665) was observed between the prolongation of P100 latency and the severity of the clinical picture.
UNASSIGNED: Our results showed the important role of VEP in the description of clinical phenotypes of NF type 1. The authors of the study propose VEP to be included in the diagnostic algorithms designed for patients with NF type 1.
UNASSIGNED: We examined the differences between NF type 1 patients with normal and altered VEP and analyzed the correlation between the prolongation of P100 latency and disease severity.
UNASSIGNED: Two groups were formed: a control group and a study group with NF type 1 patients. Based on the control group analysis, a threshold value for a normal VEP finding of 116 ms was obtained, and it was used to divide the study group into subgroups with normal and altered VEP. We proceeded with examining the differences in clinical manifestations of the disease between the subgroups, after which we checked if there is a correlation between the prolongation of the P100 latency and the severity of the clinical picture according to the Riccardi scale. Statistical analysis was performed using the Pearson chi-square test and the Spearman correlation test in the program SPSS 28.0, with levels of statistical significance p = 0.05 and p = 0.001.
UNASSIGNED: In the group with the abnormal VEP we found a statistically significant more frequent occurrence of optic tract glioma (p = 0.008), tumors (p = 0.032), epilepsy (p = 0.043), and cognitive disorders (p = 0.028), while the other clinical signs had an equal prevalence in both groups. A moderately strong correlation (r s = 0.665) was observed between the prolongation of P100 latency and the severity of the clinical picture.
UNASSIGNED: Our results showed the important role of VEP in the description of clinical phenotypes of NF type 1. The authors of the study propose VEP to be included in the diagnostic algorithms designed for patients with NF type 1.
摘要：
■神经纤维瘤病1型（NF1型）是一种常染色体显性疾病，具有典型的临床表现，如皮肤损伤，Lisch结节，视路胶质瘤，和神经纤维瘤,由NF1基因的突变引起的。视觉诱发电位（VEP）是视觉皮层对视觉刺激的电生理反应的量度。VEP在NF1型的病理生理学中的作用非常复杂，需要进一步的研究。
■我们检查了VEP正常和改变的NF1型患者之间的差异，并分析了P100潜伏期延长与疾病严重程度之间的相关性。
■两组：对照组和NF1型患者研究组。在对照组分析的基础上，获得了正常VEP发现116ms的阈值，并将研究组分为VEP正常和改变的亚组。我们继续研究亚组之间疾病临床表现的差异，之后，我们根据Riccardi量表检查P100潜伏期的延长与临床表现的严重程度之间是否存在相关性。在SPSS28.0程序中使用Pearson卡方检验和Spearman相关性检验进行统计分析，具有统计学意义的水平p=0.05和p=0.001。
■在VEP异常的组中，我们发现视神经胶质瘤的发生率有统计学意义（p=0.008），肿瘤（p=0.032），癫痫（p=0.043），和认知障碍（p=0.028），而其他临床体征在两组中的患病率相同.在P100潜伏期的延长与临床表现的严重程度之间观察到中度强相关性（rs=0.665）。
■我们的结果显示了VEP在NF1型临床表型描述中的重要作用。该研究的作者建议将VEP纳入为1型NF患者设计的诊断算法中。
■我们检查了VEP正常和改变的NF1型患者之间的差异，并分析了P100潜伏期延长与疾病严重程度之间的相关性。
■两组：对照组和NF1型患者研究组。在对照组分析的基础上，获得了正常VEP发现116ms的阈值，并将研究组分为VEP正常和改变的亚组。我们继续研究亚组之间疾病临床表现的差异，之后，我们根据Riccardi量表检查P100潜伏期的延长与临床表现的严重程度之间是否存在相关性。在SPSS28.0程序中使用Pearson卡方检验和Spearman相关性检验进行统计分析，具有统计学意义的水平p=0.05和p=0.001。
■在VEP异常的组中，我们发现视神经胶质瘤的发生率有统计学意义（p=0.008），肿瘤（p=0.032），癫痫（p=0.043），和认知障碍（p=0.028），而其他临床体征在两组中的患病率相同.在P100潜伏期的延长与临床表现的严重程度之间观察到中度强相关性（rs=0.665）。
■我们的结果显示了VEP在NF1型临床表型描述中的重要作用。该研究的作者建议将VEP纳入为1型NF患者设计的诊断算法中。
