Chen Chun-Li, Yang Jia-Song, Zhang Xiang, Tian Tian, Zeng Rui, Zhang Guan-Hong, Jia Xin-Guo
Department of Ophthalmology, Shengli Oilfield Central Hospital, Shandong Province, Dongying, 257000, China.
Department of Ophthalmology, Tianjin Medical University Eye Hospital, Tianjin, 30000, China.
BMC Ophthalmol. 2018 Aug 14;18(1):199. doi: 10.1186/s12886-018-0873-4.
To report a case of Werner's syndrome with bilateral juvenile cataracts.
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.
The ocular and systemic findings in this patient in combination with the homozygous WRN mutation indicated the definitive Werner's syndrome diagnosis.
报告一例患有双侧青少年白内障的沃纳综合征病例。
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。
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。
