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神经纤维瘤病累及眼部的临床表现

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神经纤维瘤病(neurofibromatosis,NF)是一种以中枢或周围神经系统肿瘤发展为特征的神经皮肤综合征,可累及脑、脊髓、皮肤、骨骼、眼部等器官.NF所致的眼部病变表现多样,既可累及眼睑、眼眶,也可累及晶状体、葡萄膜、视网膜等眼内结构,对于患者的眼部外观和视功能均可产生不同程度的损害,导致上睑下垂、面部畸形、视力下降、视野缺损等,严重影响患者的视觉质量和生活质量.(国际眼科纵览,2024,48:156-封三)
Clinical manifestations of ocular involving neurofibromatosis
Neurofibromatosis(NF)is a neurocutaneous syndrome characterized by the development of tumors of the central or peripheral nervous system including the brain,spinal cord,eyes,skin and bones.When the eyes are involved by NF,the clinical manifestations are varied,which can affect not only the eye-lids and orbits,but also the intraocular structures such as the lens,uvea,and retina.It can cause varying degrees of damage to the patient's appearance and visual function,leading to eyelid ptosis,facial deformi-ties,decreased vision,and visual field defects,seriously affecting the patients visual quality and quality of life.(hit Rev Ophthalmol,2024,48:156-Cover Ⅲ)

neurofibromatosisgenetic diseaseclinical manifestations

冯云、李婷、陈玲、张莎莎、洪霞、林萍、毛真

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西安市儿童医院眼科,西安 710003

长春中医药大学附属医院眼科,长春 130000

中山大学中山眼科中心眼病防治全国重点实验室广东省眼科视觉科学重点实验室,广州 510060

神经纤维瘤病 遗传性疾病 临床特征

2024

国际眼科纵览
中华医学会 北京市眼科研究所

国际眼科纵览

影响因子:0.243
ISSN:1673-5803
年,卷(期):2024.48(2)
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