脆性角膜综合征：一例病例报告及与埃勒斯-当洛综合征的比较。

Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome.

作者信息

Ramappa Muralidhar, Wilson M Edward, Rogers R Curtis, Trivedi Rupal H

机构信息

Miles Center for Pediatric Ophthalmology, Storm Eye Institute, Department of Ophthalmology, Medical University of South Carolina, Charleston; Cornea and Anterior Segment Services, L V Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad, India.

Miles Center for Pediatric Ophthalmology, Storm Eye Institute, Department of Ophthalmology, Medical University of South Carolina, Charleston.

出版信息

J AAPOS. 2014 Oct;18(5):509-11. doi: 10.1016/j.jaapos.2014.06.013. Epub 2014 Sep 27.

DOI:10.1016/j.jaapos.2014.06.013

PMID:25266838

Abstract

We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis and prompt measures were taken to manage the condition. Long-term follow-up of children diagnosed with brittle cornea syndrome is important to minimize the risks of corneal rupture and for detecting late-onset systemic conditions.

摘要

我们报告了一名6周大的白人男婴，其父母非近亲结婚。该男婴出现巩膜蓝染、角膜薄和进行性高度近视。通过分子分析确诊为脆性角膜综合征，并迅速采取措施处理该病症。对诊断为脆性角膜综合征的儿童进行长期随访，对于将角膜破裂风险降至最低以及检测迟发性全身性疾病非常重要。