Ocular Manifestations in Patients with Werner Syndrome

Werner syndrome is a rare autosomal recessive premature aging syndrome characterized by its development after puberty and death in patients in their 50s due to cancer or atherosclerotic disease. Early diagnosis can improve the management of disease, quality of life and prolong the lifespan of patients with Werner syndrome. Ophthalmologists should include Werner syndrome in the general work-up in patients with bilateral early-onset cataracts. We present a case of Werner syndrome with initial signs of juvenile cataracts. The patient had a high-pitched voice, a bird-like face and progeroid hair. We performed routine ophthalmological examinations including slit-lamp examinations, fundus examinations, and optical coherence tomography, and genetic analysis. The patient had plateau iris and pachychoroid-like features in addition to bilateral cataracts. The gene analysis revealed compound heterozygosity of Mut4 and Mut25 in WRN and the patient was diagnosed with Werner syndrome. After cataract surgeries, his visual acuities were improved. Additionally, we performed a thorough literature review to better understand the previously reported ocular manifestations in patients with Werner syndrome.