Abstract
BackgroundTo report a case of Werner’s syndrome with bilateral juvenile cataracts.Case presentationReview 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.ConclusionsThe ocular and systemic findings in this patient in combination with the homozygous WRN mutation indicated the definitive Werner’s syndrome diagnosis.
Highlights
To report a case of Werner’s syndrome with bilateral juvenile cataracts
Werner’s syndrome was first described by Werner in 1904; it is known as adult premature aging syndrome, or progeria of adult
Werner’s syndrome is an autosomal recessive and rarely inherited disease characterized by onset of a prematurely aged-appearance typically starts in the 20–30s followed by age-related disorders like cataracts, diabetes mellitus, atherosclerosis, cancers, and osteoporosis [1, 2]
Summary
Werner’s syndrome was first described by Werner in 1904; it is known as adult premature aging syndrome, or progeria of adult. Werner’s syndrome is an autosomal recessive and rarely inherited disease characterized by onset of a prematurely aged-appearance (grey hair, scleroderma-like skin) typically starts in the 20–30s followed by age-related disorders like cataracts, diabetes mellitus, atherosclerosis, cancers, and osteoporosis [1, 2]. According to the ocular symptoms and systemic signs, including low body weight, a short stature, a bird-like face, atrophic and scleroderma-like skin, and juvenile cataracts, the clinical diagnosis of Werner’s syndrome was made. Next-generation sequencing identified a homozygous WRN mutation in this patient. Five bases (c.3460_3461 insTTGTG) were inserted between the 3460 and 3461 nucleotides of WRN gene in this patient, resulting in a frame shift mutation of amino acids Post-operative appearance showed the clear IOL in place (Fig. 1b).
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