elastin and Astigmatism

Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features.. Sixteen patients with confirmed WBS went through thorough ophthalmologic examination.. The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%).. This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.

Topics: Adolescent; Adult; Astigmatism; Brazil; Child; Child, Preschool; Elastin; Eye Diseases; Female; Humans; Hyperopia; In Situ Hybridization, Fluorescence; Iris Diseases; Lim Kinases; Loss of Heterozygosity; Male; Microsatellite Repeats; Polymerase Chain Reaction; Real-Time Polymerase Chain Reaction; Retinal Vessels; Strabismus; Williams Syndrome