Abstract：
To clarify the possibilities and role of posterior segment imaging in patients with neurofibromatosis type I (NF1), and to show the prevalence of this disease in the pediatric population in Slovakia.
Until recently, ophthalmologic consultations in patients with NF1 were limited mainly to the observation of Lisch nodules of the iris and the presence of optic nerve glioma. However, advances in imaging capabilities have made it possible to investigate and describe new f indings concerning the ocular manifestations of this disease. Between October 2020 and November 2021, we examined the anterior and posterior segment of 76 eyes (38 children – 12 boys and 26 girls) with genetically confirmed NF1 gene mutation at our clinic. The age of the patients ranged from 4 to 18 years. The anterior segment was checked for the presence of Lisch nodules biomicroscopically with a slit lamp. On the posterior segment, the presence of choroidal nodules was checked by various imaging methods – fundus camera, infrared confocal selective laser ophthalmoscopy, MultiColor imaging, OCT, and OCT angiography. All the patients had magnetic resonance imaging performed in order to detect potential optic nerve gliomas for the purpose of diagnosis. We observed the correlation between the patients’ age, presence of Lisch nodules and the presence of choroidal nodules. Eight patients also had other manifestations of the disease – optic nerve gliomas or microvascular changes (so-called “corkscrew” vessels).
Out of 38 patients, Lisch iris nodules were present in 20 patients (53%) and choroidal nodules in 24 patients (63%). There was no positive correlation between the presence of these two manifestations within the same patient or eye, but there is a clear correlation between the presence of choroidal nodules and patient age.
The results suggest that a previously unknown ocular manifestation of neurofibromatosis type I, namely choroidal nodules, has a higher prevalence than Lisch nodules also in the pediatric population and can be easily visualized using various imaging modalities. It will be important to include follow-up observation of this finding among the standard controls for ocular findings in NF1, and it will be very interesting to correlate this f inding with the exact NF1 mutation
Until recently, ophthalmologic consultations in patients with NF1 were limited mainly to the observation of Lisch nodules of the iris and the presence of optic nerve glioma. However, advances in imaging capabilities have made it possible to investigate and describe new f indings concerning the ocular manifestations of this disease. Between October 2020 and November 2021, we examined the anterior and posterior segment of 76 eyes (38 children – 12 boys and 26 girls) with genetically confirmed NF1 gene mutation at our clinic. The age of the patients ranged from 4 to 18 years. The anterior segment was checked for the presence of Lisch nodules biomicroscopically with a slit lamp. On the posterior segment, the presence of choroidal nodules was checked by various imaging methods – fundus camera, infrared confocal selective laser ophthalmoscopy, MultiColor imaging, OCT, and OCT angiography. All the patients had magnetic resonance imaging performed in order to detect potential optic nerve gliomas for the purpose of diagnosis. We observed the correlation between the patients’ age, presence of Lisch nodules and the presence of choroidal nodules. Eight patients also had other manifestations of the disease – optic nerve gliomas or microvascular changes (so-called “corkscrew” vessels).
Out of 38 patients, Lisch iris nodules were present in 20 patients (53%) and choroidal nodules in 24 patients (63%). There was no positive correlation between the presence of these two manifestations within the same patient or eye, but there is a clear correlation between the presence of choroidal nodules and patient age.
The results suggest that a previously unknown ocular manifestation of neurofibromatosis type I, namely choroidal nodules, has a higher prevalence than Lisch nodules also in the pediatric population and can be easily visualized using various imaging modalities. It will be important to include follow-up observation of this finding among the standard controls for ocular findings in NF1, and it will be very interesting to correlate this f inding with the exact NF1 mutation
摘要：
阐明后段成像在I型神经纤维瘤病（NF1）患者中的可能性和作用，并显示这种疾病在斯洛伐克儿科人群中的患病率。
直到最近,NF1患者的眼科咨询主要限于虹膜Lisch结节的观察和视神经胶质瘤的存在。然而,成像能力的进步使得研究和描述这种疾病眼部表现的新表现成为可能。在2020年10月至2021年11月之间，我们在我们的诊所检查了76只眼睛（38名儿童-12名男孩和26名女孩）的前段和后段，并进行了基因证实的NF1基因突变。患者的年龄范围为4至18岁。用裂隙灯通过生物显微镜检查前段是否存在Lisch结节。在后段，脉络膜结节的存在通过各种成像方法检查-眼底照相机，红外共聚焦选择性激光检眼镜，多色成像,OCT,和OCT血管造影。所有患者均进行了磁共振成像，以检测潜在的视神经胶质瘤以进行诊断。我们观察了患者年龄之间的相关性，存在Lisch结节和脉络膜结节。八名患者也有其他疾病表现-视神经胶质瘤或微血管变化（所谓的“开瓶器”血管）。
在38名患者中,20例患者（53％）存在Lisch虹膜结节，24例患者（63％）存在脉络膜结节。在同一患者或眼睛中这两种表现的存在之间没有正相关，但是脉络膜结节的存在与患者年龄之间存在明显的相关性。
结果表明，以前未知的I型神经纤维瘤病的眼部表现，即脉络膜结节，在儿科人群中，其患病率也高于Lisch结节，并且可以使用各种成像方式轻松可视化。在NF1中的眼部发现的标准对照中包括对该发现的后续观察将是重要的,并且将该结合与确切的NF1突变相关联将是非常有趣的。
直到最近,NF1患者的眼科咨询主要限于虹膜Lisch结节的观察和视神经胶质瘤的存在。然而,成像能力的进步使得研究和描述这种疾病眼部表现的新表现成为可能。在2020年10月至2021年11月之间，我们在我们的诊所检查了76只眼睛（38名儿童-12名男孩和26名女孩）的前段和后段，并进行了基因证实的NF1基因突变。患者的年龄范围为4至18岁。用裂隙灯通过生物显微镜检查前段是否存在Lisch结节。在后段，脉络膜结节的存在通过各种成像方法检查-眼底照相机，红外共聚焦选择性激光检眼镜，多色成像,OCT,和OCT血管造影。所有患者均进行了磁共振成像，以检测潜在的视神经胶质瘤以进行诊断。我们观察了患者年龄之间的相关性，存在Lisch结节和脉络膜结节。八名患者也有其他疾病表现-视神经胶质瘤或微血管变化（所谓的“开瓶器”血管）。
在38名患者中,20例患者（53％）存在Lisch虹膜结节，24例患者（63％）存在脉络膜结节。在同一患者或眼睛中这两种表现的存在之间没有正相关，但是脉络膜结节的存在与患者年龄之间存在明显的相关性。
结果表明，以前未知的I型神经纤维瘤病的眼部表现，即脉络膜结节，在儿科人群中，其患病率也高于Lisch结节，并且可以使用各种成像方式轻松可视化。在NF1中的眼部发现的标准对照中包括对该发现的后续观察将是重要的,并且将该结合与确切的NF1突变相关联将是非常有趣的。
