脆性角膜综合征：一例病例报告及文献综述
Brittle cornea syndrome: a case report and review of the literature.
作者信息
Wan Qi, Tang Jing, Han Yu, Xiao Qibin, Deng Yingping
机构信息
Department of Ophthalmology, The people's hospital of Leshan, Leshan City, People's Republic of China.
Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China.
出版信息
BMC Ophthalmol. 2018 Sep 18;18(1):252. doi: 10.1186/s12886-018-0903-2.
BACKGROUND
To report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia.
CASE PRESENTATION
A 6-year-old Chinese female patient presented with a significant bluish discoloration of the sclera in both eyes and extreme corneal thinning with anterior corneal protrusion. General pediatric physical examination was normal for all systems and no genetic disorders known were observed.
CONCLUSIONS
We aim to highlight the importance of diagnosis and treatment of patients suffering from Brittle cornea syndrome. Timely diagnosis and early provision of protective glasses seem to be the most important step in treating BCS. To our knowledge, this is the first case of BCS being reported in the Asia area.
背景
报告一名出现巩膜蓝染、圆锥角膜和进行性高度近视的患者。
病例介绍
一名6岁中国女性患者双眼巩膜出现明显蓝染，角膜极度变薄并向前突出。儿科全身检查各系统均正常，未观察到已知的遗传疾病。
结论
我们旨在强调脆性角膜综合征患者诊断和治疗的重要性。及时诊断并尽早提供防护眼镜似乎是治疗脆性角膜综合征最重要的步骤。据我们所知，这是亚洲地区首次报道的脆性角膜综合征病例。
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