一例伴有双侧青少年白内障的沃纳综合征病例报告。
A case report of Werner's syndrome with bilateral juvenile cataracts.
作者信息
Chen Chun-Li, Yang Jia-Song, Zhang Xiang, Tian Tian, Zeng Rui, Zhang Guan-Hong, Jia Xin-Guo
机构信息
Department of Ophthalmology, Shengli Oilfield Central Hospital, Shandong Province, Dongying, 257000, China.
Department of Ophthalmology, Tianjin Medical University Eye Hospital, Tianjin, 30000, China.
出版信息
BMC Ophthalmol. 2018 Aug 14;18(1):199. doi: 10.1186/s12886-018-0873-4.
BACKGROUND
To report a case of Werner's syndrome with bilateral juvenile cataracts.
CASE PRESENTATION
Review of the clinical, laboratory, photographic, genetic testing of the patient. A 26-year-old Chinese man presented with impaired vision in both eyes for more than a year. Anterior segment examination of both eyes revealed cataract. According to the ocular symptoms and systemic signs, including low body weight, a short stature, a bird-like face, atrophic and scleroderma-like skin, in addition to the juvenile cataracts, the clinical diagnosis of Werner's syndrome was made. Next-generation sequencing identified a homozygous WRN mutation in this patient.
CONCLUSIONS
The ocular and systemic findings in this patient in combination with the homozygous WRN mutation indicated the definitive Werner's syndrome diagnosis.
背景
报告一例患有双侧青少年白内障的沃纳综合征病例。
病例介绍
回顾该患者的临床、实验室、影像学及基因检测情况。一名26岁中国男性，双眼视力受损超过一年。双眼前段检查发现白内障。根据眼部症状及全身体征，包括体重低、身材矮小、鸟脸、萎缩性和硬皮病样皮肤，以及青少年白内障，做出了沃纳综合征的临床诊断。二代测序在该患者中鉴定出纯合的WRN突变。
结论
该患者的眼部和全身表现，结合纯合的WRN突变，明确诊断为沃纳综合征。
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