Neuro-ophthalmic manifestations of Ehlers-Danlos syndrome.

IF 3 2区 医学 Q1 OPHTHALMOLOGY Current Opinion in Ophthalmology Pub Date : 2023-11-01 Epub Date: 2023-08-30 DOI:10.1097/ICU.0000000000001002
Sruti S Rachapudi, Noor A Laylani, Pamela A Davila-Siliezar, Andrew G Lee
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引用次数: 0

Abstract

Purpose of review: To review the neuro-ophthalmic manifestations of Ehlers-Danlos syndrome (EDS).

Recent findings: Ehlers-Danlos syndrome (EDS) is a rare genetic disorder with an estimated prevalence of 1 in 5000 individuals, but its true prevalence may be underestimated because of variable clinical presentations and limited awareness among healthcare professionals. The neuro-ophthalmic features of EDS may be difficult to recognize in context but new molecular genetic testing is now available for identification of specific subtypes of EDS.

Summary: Ophthalmic manifestations of EDS include loss of vision and double vision (strabismus), high myopia, retinal detachment, and blue sclera. The vascular subtype of EDS can present as a carotid-cavernous fistula, intracranial aneurysm, or arterial dissection.

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埃勒斯-丹洛斯综合征的神经眼科表现。
综述目的:综述埃勒斯-丹洛斯综合征(EDS)的神经眼科表现。最近的研究结果:埃勒斯-达洛斯综合征是一种罕见的遗传性疾病,估计患病率为1/5000,但由于临床表现多变,医疗专业人员的知识有限,其真实患病率可能被低估。EDS的神经眼科特征可能很难在上下文中识别,但新的分子遗传学测试现在可用于识别EDS的特定亚型。总结:EDS的眼科表现包括视力丧失和复视(斜视)、高度近视、视网膜脱离和蓝色巩膜。EDS的血管亚型可表现为颈动脉海绵窦瘘、颅内动脉瘤或动脉夹层。
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来源期刊
CiteScore
6.80
自引率
5.40%
发文量
120
审稿时长
6-12 weeks
期刊介绍: Current Opinion in Ophthalmology is an indispensable resource featuring key up-to-date and important advances in the field from around the world. With renowned guest editors for each section, every bimonthly issue of Current Opinion in Ophthalmology delivers a fresh insight into topics such as glaucoma, refractive surgery and corneal and external disorders. With ten sections in total, the journal provides a convenient and thorough review of the field and will be of interest to researchers, clinicians and other healthcare professionals alike.
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