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Neuro-ophthalmic manifestations of Ehlers-Danlos syndrome
被引:0
|作者:
Rachapudi, Sruti S.
[1
]
Laylani, Noor A.
[2
]
Davila-Siliezar, Pamela A.
[2
]
Lee, Andrew G.
[2
,3
,4
,5
,6
,7
,8
,9
]
机构:
[1] Univ Texas Med Branch, Galveston, TX USA
[2] Houston Methodist Hosp, Blanton Eye Inst, Dept Ophthalmol, 6560 Fannin St,Ste 450, Houston, TX 77030 USA
[3] Weill Cornell Med, Dept Ophthalmol, New York, NY USA
[4] Weill Cornell Med, Dept Neurol, New York, NY USA
[5] Weill Cornell Med, Dept Neurosurg, New York, NY USA
[6] Univ Texas Med Branch, Dept Ophthalmol, Galveston, TX USA
[7] Univ Texas MD Anderson Canc Ctr, Houston, TX USA
[8] Texas A&M Coll Med, Bryan, TX USA
[9] Univ Iowa Hosp & Clin, Dept Ophthalmol, Iowa City, IA USA
关键词:
Ehlers-Danos syndromes;
hypermobility;
ophthalmic manifestations;
PATIENT;
D O I:
10.1097/ICU.0000000000001002
中图分类号:
R77 [眼科学];
学科分类号:
100212 ;
摘要:
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. Copyright (C) 2023 Wolters Kluwer Health, Inc. All rights reserved.
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页码:476 / 480
页数:5
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