神经纤维瘤病 I 型脉络膜结节的多模态成像。

Q4 Medicine Ceska a Slovenska Oftalmologie Pub Date : 2024-01-01 DOI:10.31348/2024/9
Filip Kecer, Ana Sharashidze, Veronika Popová, Beáta Bušányová, Anton Gerinec, Dana Tomčíková
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引用次数: 0

摘要

目的:阐明后节造影在I型神经纤维瘤病(NF1)患者中的可能性和作用,并显示该病在斯洛伐克儿科人群中的发病率:直到最近,NF1 患者的眼科会诊仍主要局限于观察虹膜上的 Lisch 结节和是否存在视神经胶质瘤。然而,成像技术的进步使得研究和描述有关该疾病眼部表现的新发现成为可能。2020 年 10 月至 2021 年 11 月期间,我们在本诊所检查了 76 只经基因证实患有 NF1 基因突变的眼睛(38 名儿童,其中 12 名男孩和 26 名女孩)的前后节。患者年龄从 4 岁到 18 岁不等。用裂隙灯在生物显微镜下检查前段是否存在 Lisch 结节。在后段,通过各种成像方法检查是否存在脉络膜结节--眼底照相机、红外共焦选择性激光眼底镜、多色成像、OCT 和 OCT 血管造影。所有患者都进行了磁共振成像检查,以发现潜在的视神经胶质瘤,从而进行诊断。我们观察了患者的年龄、Lisch 结节和脉络膜结节之间的相关性。八名患者还伴有其他疾病表现--视神经胶质瘤或微血管病变(所谓的 "开瓶器 "血管):在 38 名患者中,有 20 名患者(53%)出现了 Lisch 虹膜结节,24 名患者(63%)出现了脉络膜结节。同一患者或同一眼球出现这两种表现之间没有正相关,但脉络膜结节的出现与患者年龄有明显的相关性:结论:研究结果表明,I型神经纤维瘤病的一种之前未知的眼部表现,即脉络膜结节,在儿科人群中的发病率高于Lisch结节,而且可以通过各种成像模式轻松观察到。将这一发现纳入 NF1 眼部发现的标准对照中进行随访观察将非常重要,将这一发现与 NF1 的确切突变相关联将非常有趣。
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Multimodal Imaging of Choroidal Nodules in Neurofibromatosis Type I.

Aim: 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.

Material and methods: 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).

Results: 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.

Conclusion: 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

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Ceska a Slovenska Oftalmologie
Ceska a Slovenska Oftalmologie Medicine-Ophthalmology
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