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[1型神经纤维瘤病最初在眼科表现为青光眼:一例报告]

[Neurofibromatosis type 1 initially presented with glaucoma in the Department of Ophthalmology: a case report].

作者信息

Yan H X, Fei F, Hu D, Zhou J, Li M H, Zhang Z F, Wang Y S

机构信息

Department of Ophthalmology, Xijing Hospital, Air Force Military Medical University, Eye Institute of Chinese PLA, Xi'an 710032, China.

出版信息

Zhonghua Yan Ke Za Zhi. 2022 May 11;58(5):373-375. doi: 10.3760/cma.j.cn112142-20211024-00501.

Abstract

An eleven-year-old boy visited the Department of Ophthalmology due to visual acuity loss accompanied by high intraocular tension in the left eye for one year. Besides glaucoma, the typical ocular manifestations of neurofibromatosis type 1 such as bilateral Lisch nodules of the iris, multiple patchy choroidal nodules and retinal microvascular abnormalities were identified, and Cafe-au-lait macules appeared on the body skin. Based on the medical history, clinical presentation and auxiliary examination results, the diagnosis of neurofibromatosis type 1 with secondary glaucoma in the left eye was confirmed.

摘要

一名11岁男孩因左眼视力丧失伴高眼压1年就诊于眼科。除青光眼外,还发现了1型神经纤维瘤病的典型眼部表现,如双侧虹膜Lisch结节、多个斑片状脉络膜结节和视网膜微血管异常,且身体皮肤上出现了咖啡牛奶斑。根据病史、临床表现及辅助检查结果,确诊为1型神经纤维瘤病伴左眼继发性青光眼。

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