A case report of Werner's syndrome with bilateral juvenile cataracts.
A case report of Werner's syndrome with bilateral juvenile cataracts.
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DOI：
10.1186/s12886-018-0873-4
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发表时间：
2018-08-14
影响因子：
2
通讯作者：
Jia XG
中科院分区：
文献类型：
--
作者：
Chen CL;Yang JS;Zhang X;Tian T;Zeng R;Zhang GH;Jia XG
报告1例Werner综合征合并双眼青少年白内障。对患者的临床、实验室、照相、基因检测进行回顾。一名26岁的中国男子在一年多的时间里双眼视力受损。双眼眼前段检查均为白内障。根据眼部症状和全身体征，包括体重低、身材矮小、鸟脸、萎缩和硬皮病样皮肤，以及青少年白内障，临床诊断为Werner综合征。下一代测序在该患者中发现了纯合子WRN突变。该患者的眼部和全身表现与WRN纯合子突变相结合，表明了明确的沃纳综合征诊断。
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.
影响因子：
56.9
作者：
Yu, CE;Oshima, J;Schellenberg, GD
通讯作者：
Schellenberg, GD
影响因子：
168.9
作者：
Satoh, M;Imai, M;Furuichi, Y
通讯作者：
Furuichi, Y
影响因子：
5.3
作者：
Goto, M;Imamura, O;Furuichi, Y
通讯作者：
Furuichi, Y