title: Chromosomal aberrations in cerebral visual impairment.
abstract: BACKGROUND
  Cerebral visual impairment (CVI) is a disorder in projection and/or interpretation of the visual input in the brain and accounts for 27% of the visually impaired children.
  
  
  OBJECTIVE
  A large cohort of patients with CVI was investigated in order to ascertain the relevance of chromosomal aberrations in the etiology of this disorder.
  
  
  METHODS
  607 patients with CVI and a visual acuity ≤0.3 were assessed for the presence of a chromosomal aberration retrospectively. The observed aberrations were classified for pathogenicity.
  
  
  RESULTS
  A total of 98 chromosomal aberrations were found in 79 persons (13%) of the cohort. In nine persons it was not possible to classify the clinical implication of the aberration, due to lack of detailed information. In 70 persons it was possible to classify the aberration for causality: in 41 patients the aberration was associated with CVI, in 16 it was unknown and in 13 the aberration was unlikely to be associated with CVI. For four aberrations, present in 26 patients, the association with CVI has been reported before: trisomy 21, 1p36 deletion syndrome, 17p13.3 deletion syndrome (Miller-Dieker syndrome) and 22q13.3 deletion syndrome (Phelan-McDermid syndrome). The chromosomal aberrations in another 15 patients were for the first time associated with CVI.
  
  
  CONCLUSIONS
  Chromosomal aberrations associated with CVI were found in 7% (41/607) of patients, of which 37% (15/41) have not been reported before in association with CVI. Therefore, in patients with CVI chromosomal investigations should be routinely performed to warrant a good clinical diagnosis and counseling.
authors.affiliation: Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: Daniëlle G M
authors.initials: DG
authors.lastname: Bosch
authors.affiliation: Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: F Nienke
authors.initials: FN
authors.lastname: Boonstra
authors.affiliation: Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: Margot R F
authors.initials: MR
authors.lastname: Reijnders
authors.affiliation: Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.affiliation: Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.
authors.forename: Frans P M
authors.initials: FP
authors.lastname: Cremers
authors.affiliation: Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud university medical center, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, Radboud university medical center, Nijmegen, The Netherlands. Electronic address: Bert.deVries@radboudumc.nl.
authors.forename: Bert B A
authors.initials: BB
authors.lastname: de Vries
mesh_terms: D019575:Blindness, Cortical / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D015331:Cohort Studies; D004314:Down Syndrome / Q000150:complications; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D014792:Visual Acuity / Q000235:genetics; D019987:Persons with Visual Disabilities
keywords: Aneuploidy; Cerebral visual impairment; Chromosomal aberrations; Copy number variations; Genetic