title: A new case of keratoconus associated with Williams-Beuren syndrome.
abstract: BACKGROUND
  Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome.
  
  
  OBJECTIVE
  To report a new patient with keratoconus and Williams-Beuren syndrome.
  
  
  CONCLUSIONS
  This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.
authors.affiliation: Serviço Especial de Genética Médica, Hospital das Clínicas, Universidade Federal de Minas Gerais, Brazil. mmviana@ufmg.br
authors.forename: Melissa Machado
authors.initials: MM
authors.lastname: Viana
authors.forename: Maria
authors.initials: M
authors.lastname: Frasson
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 da Silva
authors.initials: Pda S
authors.lastname: Cunha
authors.forename: Marcos José Burle
authors.initials: MJ
authors.lastname: de Aguiar
mesh_terms: D000328:Adult; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D019781:Corneal Topography; D004549:Elastin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007640:Keratoconus / Q000175:diagnosis / Q000235:genetics*; D054461:Lim Kinases / Q000235:genetics*; D008297:Male; D060888:Real-Time Polymerase Chain Reaction; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004549:Elastin; C515892:LIMK1 protein, human; D054461:Lim Kinases