Cesk Slov Oftalmol. 2024;80(2):86-92. doi: 10.31348/2024/9.
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
阐明Ⅰ型神经纤维瘤病（NF1）患者的后节成像的可能性和作用，并展示这种疾病在斯洛伐克儿科人群中的流行情况。
直到最近，NF1 患者的眼科检查主要限于观察虹膜的 Lisch 结节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的眼部表现的新发现成为可能。在我们的诊所，我们在 2020 年 10 月至 2021 年 11 月期间检查了 76 只眼睛（38 例患儿-12 名男孩和 26 名女孩）的前节和后节，这些患儿的基因均证实存在 NF1 基因突变。患者年龄从 4 岁到 18 岁不等。通过裂隙灯生物显微镜检查前节是否存在 Lisch 结节。在后节，通过各种成像方法（眼底相机、红外共聚焦选择性激光检眼镜、多光谱成像、OCT 和 OCT 血管造影）检查脉络膜结节的存在。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，以便诊断。我们观察了患者年龄、Lisch 结节的存在与脉络膜结节的存在之间的相关性。有 8 例患者还存在其他疾病表现-视神经胶质瘤或微血管变化（所谓的“螺旋”血管）。
在 38 例患者中，20 例（53%）存在虹膜 Lisch 结节，24 例（63%）存在脉络膜结节。在同一患者或同一眼睛中，这两种表现之间没有阳性相关性，但脉络膜结节的存在与患者年龄之间存在明显相关性。
结果表明，神经纤维瘤病Ⅰ型的一种以前未知的眼部表现，即脉络膜结节，在儿科人群中的患病率高于 Lisch 结节，并且可以使用各种成像方式轻松观察到。在 NF1 的眼部标准检查中纳入对这种发现的随访观察将非常重要，并且将这种发现与确切的 NF1 突变相关联将非常有趣。
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