title: Ocular Features in 16 Brazilian Patients with Williams-Beuren Syndrome.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Sixteen patients with confirmed WBS went through thorough ophthalmologic examination.
  
  
  RESULTS
  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%).
  
  
  CONCLUSIONS
  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.
authors.affiliation: a Serviço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas Gerais .
authors.forename: Melissa Machado
authors.initials: MM
authors.lastname: Viana
authors.forename: Maria
authors.initials: M
authors.lastname: Frasson
authors.forename: Henrique
authors.initials: H
authors.lastname: Galvão
authors.forename: Letícia Lima
authors.initials: LL
authors.lastname: Leão
authors.forename: Martin
authors.initials: M
authors.lastname: Stofanko
authors.forename: Higgor
authors.initials: H
authors.lastname: Gonçalves-Dornelas
authors.forename: Pricila
authors.initials: P
authors.lastname: da Silva Cunha
authors.forename: Marcos José
authors.initials: MJ
authors.lastname: Burle de Aguiar
mesh_terms: D000293:Adolescent; D000328:Adult; D001251:Astigmatism / Q000175:diagnosis; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D004549:Elastin / Q000235:genetics; D005128:Eye Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006801:Humans; D006956:Hyperopia / Q000175:diagnosis; D017404:In Situ Hybridization, Fluorescence; D007499:Iris Diseases / Q000175:diagnosis; D054461:Lim Kinases / Q000235:genetics; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D060888:Real-Time Polymerase Chain Reaction; D012171:Retinal Vessels / Q000473:pathology; D013285:Strabismus / Q000175:diagnosis; D018980:Williams Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics
chemical_list: D004549:Elastin; C515892:LIMK1 protein, human; D054461:Lim Kinases
keywords: 7q11.23; Williams-Beuren syndrome; microdeletion; ocular features