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神经纤维瘤病的眼眶及眼睑表现:一项临床研究与文献综述

Orbital and eyelid manifestations of neurofibromatosis: a clinical study and literature review.

作者信息

Farris S R, Grove A S

机构信息

Department of Ophthalmology, Fitzsimons Army Medical Center, Aurora, Colorado 80045, USA.

出版信息

Ophthalmic Plast Reconstr Surg. 1996 Dec;12(4):245-59. doi: 10.1097/00002341-199612000-00006.

DOI:10.1097/00002341-199612000-00006
PMID:8944385
Abstract

Neurofibromatosis (NF) is an autosomal dominant abnormality that may effect multiple organ systems. Eyelids, orbits, and adjacent tissues may be involved with varying frequency and severity. Plexiform neurofibromas, causing mechanical ptosis and proptosis, optic nerve gliomas, and sphenoid wing dysplasia are some of the more common orbital and eyelid findings in NF. A series of 10 patients followed for up to 18 years is reported to describe features associated with NF, their clinical evolution, and their management.

摘要

神经纤维瘤病(NF)是一种常染色体显性异常疾病,可影响多个器官系统。眼睑、眼眶及相邻组织可能会以不同的频率和严重程度受累。丛状神经纤维瘤可导致机械性上睑下垂和眼球突出,视神经胶质瘤和蝶骨翼发育异常是神经纤维瘤病中一些较为常见的眼眶和眼睑表现。本文报告了一组随访长达18年的10例患者,以描述与神经纤维瘤病相关的特征、其临床演变及治疗方法。

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BMC Med Genet. 2019 Sep 18;20(1):158. doi: 10.1186/s12881-019-0877-9.
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Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care.1型神经纤维瘤病患儿的眼眶/眶周丛状神经纤维瘤:多学科护理建议
Ophthalmology. 2017 Jan;124(1):123-132. doi: 10.1016/j.ophtha.2016.09.020. Epub 2016 Nov 3.
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Increased Ocular Pulse Amplitude Associated with Unilateral Dysgenesis of the Orbital Roof.
与单侧眶顶发育不全相关的眼动脉搏动幅度增加。
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Visual outcomes in children with neurofibromatosis type 1 and orbitotemporal plexiform neurofibromas.神经纤维瘤病 1 型伴眼眶颞部丛状神经纤维瘤患儿的视觉预后。
Am J Ophthalmol. 2013 Jun;155(6):1089-1094.e1. doi: 10.1016/j.ajo.2013.01.011. Epub 2013 Feb 26.
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Ophthalmologe. 2011 Jun;108(6):519-30. doi: 10.1007/s00347-010-2191-y.
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Ophthalmological manifestations in VHL and NF 1: pathological and diagnostic implications.VHL和NF 1的眼科表现:病理及诊断意义
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