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1 型神经纤维瘤病患者脉络膜结节的多模态影像学特征及诊断价值。

Multimodal Imaging Characteristics and Diagnostic Value of Choroidal Nodules in Patients with Neurofibromatosis Type 1.

机构信息

Dokuz Eylül University Faculty of Medicine, Department of Ophthalmology, İzmir, Türkiye.

Muş State Hospital, Clinic of Ophthalmology, Muş, Türkiye.

出版信息

Turk J Ophthalmol. 2024 Jun 28;54(3):140-148. doi: 10.4274/tjo.galenos.2024.48017.

DOI:10.4274/tjo.galenos.2024.48017
PMID:38940356
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11589307/
Abstract

OBJECTIVES

Yasunari nodules are choroidal lesions observed in patients diagnosed with neurofibromatosis type 1 (NF-1) and characterized by relatively irregular dome-shaped, plaque-like, or patchy boundaries. The present study examines the multimodal imaging characteristics of Yasunari nodules and their value in the diagnosis of NF-1.

MATERIALS AND METHODS

Medical records including optical coherence tomography (OCT), enhanced depth imaging OCT, infrared reflectance (IR) imaging, OCT angiography, and color fundus images of NF-1 patients who were examined at the Department of Ophthalmology in Dokuz Eylül University Faculty of Medicine between January 2022 and December 2023 were retrospectively reviewed for the presence of Yasunari nodules.

RESULTS

A total of 54 eyes of 27 patients were included in the study. At least one choroidal nodule was detected on IR imaging in 52 eyes (96.3%). In 31 (72.1%) of the 43 eyes (79.6%) with available high-quality OCT angiography images, choroidal nodules were observed as areas showing a flow deficit in the choriocapillaris layer. Of the total 54 eyes included, Lisch nodules without choroidal nodules were observed in 2 eyes (3.7%). In 16 eyes (29.6%), Lisch nodules were not detected despite the presence of choroidal nodules. Both Lisch nodules and choroidal nodules were detected in the other 36 eyes (66.7%).

CONCLUSION

Yasunari nodules are frequently observed in NF-1 cases and can be easily detected with multimodal imaging techniques, especially IR imaging. The ability to visualize choroidal nodules before the appearance of Lisch nodules demonstrates the importance of Yasunari nodules in the diagnosis of NF-1.

摘要

目的

Yasunari 结节是在诊断为神经纤维瘤病 1 型 (NF-1) 的患者中观察到的脉络膜病变,其特征为相对不规则的圆顶形、斑块状或斑片状边界。本研究检查了 Yasunari 结节的多模态成像特征及其在 NF-1 诊断中的价值。

材料和方法

回顾性分析 2022 年 1 月至 2023 年 12 月在多塞伊尤尔大学医学院眼科就诊的 NF-1 患者的光学相干断层扫描 (OCT)、增强深度成像 OCT、红外反射 (IR) 成像、OCT 血管造影和眼底彩色图像的医疗记录,以确定是否存在 Yasunari 结节。

结果

本研究共纳入 27 例患者的 54 只眼。在 52 只眼 (96.3%)的 IR 图像上均检测到至少一个脉络膜结节。在 43 只可获得高质量 OCT 血管造影图像的眼中 (79.6%),有 31 只眼 (72.1%)观察到脉络膜结节,表现为脉络膜毛细血管层血流缺损区域。在纳入的 54 只眼中,有 2 只眼 (3.7%)观察到无脉络膜结节的 Lisch 结节。在 16 只眼 (29.6%)中,尽管存在脉络膜结节,但未检测到 Lisch 结节。在另外 36 只眼 (66.7%)中,同时检测到 Lisch 结节和脉络膜结节。

结论

Yasunari 结节在 NF-1 病例中经常观察到,并且可以使用多模态成像技术,特别是 IR 成像,轻松检测到。在 Lisch 结节出现之前能够观察到脉络膜结节,表明 Yasunari 结节在 NF-1 诊断中的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce73/11589307/4f995f1f4c81/TurkJOphthalmol-54-140-figure-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce73/11589307/89185089c9ba/TurkJOphthalmol-54-140-figure-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce73/11589307/7844427a4224/TurkJOphthalmol-54-140-figure-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce73/11589307/23ba690e4938/TurkJOphthalmol-54-140-figure-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce73/11589307/4f995f1f4c81/TurkJOphthalmol-54-140-figure-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce73/11589307/89185089c9ba/TurkJOphthalmol-54-140-figure-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce73/11589307/7844427a4224/TurkJOphthalmol-54-140-figure-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce73/11589307/23ba690e4938/TurkJOphthalmol-54-140-figure-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ce73/11589307/4f995f1f4c81/TurkJOphthalmol-54-140-figure-4.jpg

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Choroidal Hyperreflective Nodules Detected by Infrared Reflectance Images Are a Diagnostic Criterion for Neurofibromatosis Type 1 Patients Excluding Those with High Myopia.
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