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.