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成功修复一名患有Ⅵ型埃勒斯-当洛综合征患者的自发性巩膜破裂。

Successful repair of a spontaneous scleral rupture in a patient with type VI Ehlers-Danlos syndrome.

作者信息

Lozada Rosa, Amaral Claudia, Alvarez-Falcón Samuel, Izquierdo Natalio J, Oliver Armando L

机构信息

University of Puerto Rico, Department of Ophthalmology, Medical Sciences Campus, San Juan, PR, USA.

University of Puerto Rico School of Medicine, Medical Sciences Campus, San Juan, PR, USA.

出版信息

Am J Ophthalmol Case Rep. 2020 Oct 13;20:100961. doi: 10.1016/j.ajoc.2020.100961. eCollection 2020 Dec.

DOI:10.1016/j.ajoc.2020.100961
PMID:33102932
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7575778/
Abstract

PURPOSE

To describe ocular findings in a patient with Type VI Ehlers-Danlos syndrome (EDS) and make ophthalmologists aware of the potential ophthalmic complications of this particular type of EDS. To briefly report the surgical technique utilized for the repair of spontaneous scleral rupture that may be associated with Type VI Ehlers-Danlos syndrome.

OBSERVATIONS

A 36-year-old female visited the Emergency Room due to sudden vision loss, edema, and redness of the right eye consistent with spontaneous scleral rupture secondary to scleral thinning due to Type VI EDS. Repair with scleral patch graft resulted in improvement in visual acuity, a decrease in hyphema, and discomfort resolution.

CONCLUSIONS AND IMPORTANCE

Spontaneous scleral perforation may occur in patients with Type VI EDS. A scleral patch graft may serve as a viable surgical repair alternative for such patients.

摘要

目的

描述一名患有Ⅵ型埃勒斯-当洛综合征(EDS)患者的眼部检查结果,并使眼科医生认识到这种特殊类型的EDS潜在的眼科并发症。简要报告用于修复可能与Ⅵ型埃勒斯-当洛综合征相关的自发性巩膜破裂的手术技术。

观察结果

一名36岁女性因右眼突然视力丧失、水肿和发红就诊于急诊室,症状与Ⅵ型EDS导致巩膜变薄继发的自发性巩膜破裂相符。巩膜补片移植修复术后视力提高,前房积血减少,不适症状缓解。

结论与意义

Ⅵ型EDS患者可能发生自发性巩膜穿孔。巩膜补片移植可为这类患者提供可行的手术修复选择。

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本文引用的文献

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Am J Ophthalmol Case Rep. 2019 Sep 13;17:100554. doi: 10.1016/j.ajoc.2019.100554. eCollection 2020 Mar.
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A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.17 例双等位基因突变致脊柱后侧凸型 Ehlers-Danlos 综合征患者队列:临床与突变谱的扩展及自然病史描述。
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Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study.
关节过度活动综合征/埃勒斯-当洛斯综合征过度活动型的眼部特征:一项临床和活体共聚焦显微镜研究。
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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation.成角型脊柱侧凸型埃勒斯-当洛斯综合征(EDS VIA)的表型变异性:临床、分子和生化描绘。
Orphanet J Rare Dis. 2011 Jun 23;6:46. doi: 10.1186/1750-1172-6-46.
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Structural and functional outcome of scleral patch graft.巩膜补片移植的结构和功能结果。
Eye (Lond). 2007 Jul;21(7):930-5. doi: 10.1038/sj.eye.6702344. Epub 2006 Apr 7.
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