Sruti S Rachapudi, Noor A Laylani, Pamela A Davila-Siliezar, Andrew G Lee
{"title":"Neuro-ophthalmic manifestations of Ehlers-Danlos syndrome.","authors":"Sruti S Rachapudi, Noor A Laylani, Pamela A Davila-Siliezar, Andrew G Lee","doi":"10.1097/ICU.0000000000001002","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>To review the neuro-ophthalmic manifestations of Ehlers-Danlos syndrome (EDS).</p><p><strong>Recent findings: </strong>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.</p><p><strong>Summary: </strong>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.</p>","PeriodicalId":50604,"journal":{"name":"Current Opinion in Ophthalmology","volume":"34 6","pages":"476-480"},"PeriodicalIF":3.0000,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Opinion in Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/ICU.0000000000001002","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/30 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
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.
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.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
