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A case report of Werner's syndrome with bilateral juvenile cataracts
Chun-Li Chen1,2, Jia-Song Yang3, Xiang Zhang4
1Department of Ophthalmology, Shengli Oilfield Central Hospital, Shandong Province, Dongying, 257000, China.
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.
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