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眼球穿孔的罕见病例:无全身表现的脆性角膜。

Unusual case of globe perforation: the brittle cornea without systemic manifestations.

作者信息

Joshi Shilpa Ajit, Uppapalli Shalomith, More Pranav, Deshpande Madan

机构信息

Department of Cornea, PBMA's H.V. Desai Eye Hospital, Pune, Maharashtra, India.

Department of Cornea, H.V. Desai Eye Hospital, Pune, Maharashtra, India.

出版信息

BMJ Case Rep. 2016 Oct 7;2016:bcr2016215722. doi: 10.1136/bcr-2016-215722.

Abstract

Brittle cornea syndrome is a rare generalised connective tissue disorder with ocular features like keratoglobus or keratoconus, severe corneal thinning and a high risk of perforation. Various authors in different case reports and case series have brought out the fact that brittle cornea is a disorder with characteristic systemic manifestations such as deafness, joint hypermobility, hyperelasticity of skin, kyphoscoliosis and dental abnormalities alongwith ophthalmic features. We report a case of globe perforation following trivial trauma, in an individual with brittle cornea without any extraocular manifestations, posing a challenge in the diagnosis and dilemma in surgical repair of cornea, restoration of globe integrity and visual rehabilitation. The absence of systemic manifestations decreased the index of suspicion and led to a surprise in the theatre-a point this case emphasised.

摘要

脆角膜综合征是一种罕见的全身性结缔组织疾病,具有眼球突出或圆锥角膜等眼部特征、严重的角膜变薄和高穿孔风险。不同病例报告和病例系列中的多位作者指出,脆角膜是一种具有特征性全身表现的疾病,如耳聋、关节活动过度、皮肤弹性过度、脊柱后凸侧弯和牙齿异常以及眼部特征。我们报告了一例在轻微外伤后眼球穿孔的病例,患者患有脆角膜但无任何眼外表现,这给角膜的诊断和手术修复、恢复眼球完整性及视觉康复带来了挑战。全身表现的缺失降低了怀疑指数,并在手术台上引发了意外——这是该病例所强调的一点。

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