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BMC Ophthalmology
Published in: BMC Ophthalmology 1/2018

Open Access 01-12-2018 | Case report

A case report of Werner’s syndrome with bilateral juvenile cataracts

Authors: Chun-li Chen, Jia-song Yang, Xiang Zhang, Tian Tian, Rui Zeng, Guan-hong Zhang, Xin-guo Jia

Published in: BMC Ophthalmology | Issue 1/2018

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Abstract

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.
Literature
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Satoh M, Imai M, Sugimoto M, Goto M, Furuichi Y. Prevalence of Werner's syndrome heterozygotes in Japan. Lancet. 1999;353(9166):1766.CrossRefPubMed
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Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, et al. Positional cloning of the Werner's syndrome gene. Science. 1996;272(5259):258–62.CrossRefPubMed
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Goto M, Imamura O, Kuromitsu J, Matsumoto T, Yamabe Y, Tokutake Y, Suzuki N, Mason B, Drayna D, Sugawara M, et al. Analysis of helicase gene mutations in Japanese Werner's syndrome patients. Hum Genet. 1997;99(2):191–3.CrossRefPubMed
Metadata
Title
A case report of Werner’s syndrome with bilateral juvenile cataracts
Authors
Chun-li Chen
Jia-song Yang
Xiang Zhang
Tian Tian
Rui Zeng
Guan-hong Zhang
Xin-guo Jia
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Ophthalmology / Issue 1/2018
Electronic ISSN: 1471-2415
DOI
https://doi.org/10.1186/s12886-018-0873-4

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