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神经纤维瘤病1型患者的眼部特征分析

The ocular manifestations of patients with neurofibromatosis type 1
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摘要 目的总结神经纤维瘤病1型(neurofibromatosis type 1,NF1)患者的眼部表现特征。设计回顾性病例系列。研究对象2021年10月-2022年2月北京天坛医院的NF1患者17例(34眼)。方法回顾患者的病历资料。所有患者进行眼部详细检查及相关全身检查。主要指标虹膜错构瘤发生率及眼部和全身相关表现。结果17例患者年龄10~52岁,男性9例(18眼)。视力无光感~1.2,眼压均正常。11例(64.7%)存在双眼虹膜错构瘤,表现为浅棕色~深棕色微凸起的边界清晰的结节,数目不等(3~25个),直径0.5~1.5 mm大小不等,位置可在虹膜任何部位,73.3%分布于虹膜下方。1例伴眼睑眼眶丛状神经纤维瘤,1例伴有脉络膜错构瘤。全身表现均存在牛奶咖啡斑和伴有多个类型的神经纤维瘤,12例合并腋下腹股沟雀斑。结论在本神经纤维瘤病1型病例系列中,表现为大小及数目不等的棕色微凸起结节的双眼虹膜错构瘤占65%。表明虹膜错构瘤是NF1主要表现之一,为临床医生全面认识NF1及判断病情和疾病分型提供参考。 Objective To investigate the ocular clinical manifestations of patients with neurofibromatosis type 1(NF1).Design Retrospective case series.Participants 17 cases(34 eyes)of NF1 in Beijing Tiantan Hospital from October 2021 to February 2022.Methods Clinical data of 17 patients diagnosed with NF1 were retrospectively analyzed.All patients underwent detailed ophthalmic examination and related general check-up.Main outcome measures The incidence of iris hamartoma and ocular and systemic related clinical manifestations.Results 17 patients ranged in age from 10 to 52 years were enrolled in this study,including 9 males(18 eyes)and 8 females(16 eyes).The best corrected vision acuities were from no light perception to 1.2.The intraocular pressures of all patients were normal.11 patients(64.7%)suffered iris hamartomatain of both eyes,presenting as light brown to dark brown slightly raised nodules with clear boundaries,and ranged in number from 3 to 25,with diameters ranging from 0.5 mm to 1.5 mm.Their positions ranged from close to the pupil margin to any part of the iris,73.3%distributed on inferior part of the iris.One patient suffered eyelid and orbital plexiform neurofibroma and one patient suffered choroidal abnormalities.The systemic manifestations also included milk coffee spots and neurofibroma of multiple types,and 12 cases combined with axillary groin freckles.Conclusion We found that 65%of patients presented with iris hamartoma of both eyes,which was manifested as brown micro-raised nodules of varying size and number.Iris hamartoma is one of the most important clinical manifestations of NF1,and this study provides a reference for clinicians to fully understand NF1 and determine the disease condition and classification.
作者 梁小芳 王凯悦 杨柳 张旭乡 Liang Xiaofang;Wang Kaiyue;Yang Liu;Zhang Xuxiang(Department of Ophthalmology,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China)
出处 《眼科》 CAS 2023年第5期421-424,共4页 Ophthalmology in China
关键词 神经纤维瘤病1型 虹膜错构瘤 neurofibromatosis type 1 iris hamartomata
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