title: [Ocular findings in Nijmegen breakage syndrome].
abstract: Nijmegen Breakage Syndrome (NBS) is a genomic instability disease caused by inherited mutations in the NBN/NBS1 gene. The clinical symptoms of NBS are: primary microcephaly, characteristic facial appearance, recurring respiratory tract infections caused by immune deficiency and extremely high risk of cancer development at early age.
  
  
  OBJECTIVE
  The aim of the study was to assess the vision organ in patients with NBS.
  
  
  METHODS
  Ophthalmological examination of 10 NBS patients was performed. The visual acuity, refractive errors, anterior and posterior segment of the eye ball test, tonometry and biometry were assessed.
  
  
  RESULTS
  Serious pathology of the sight organ in the study group were found, including upward slanting of the palpebral fissures, reduced visual acuity, small eyes, small cornea diameter, lens opacity, refractive errors.
  
  
  CONCLUSIONS
  The patients with Nijmegen breakage syndrome have significant sight organ abnormalities. These pathologies require long-term ophthalmologic care.
authors.affiliation: Z Kliniki Okulistyki Instytutu Pomnik-Centrum Zdrowia Dziecka w Warszawie. m.gralek@czd.pl
authors.forename: Mirosława
authors.initials: M
authors.lastname: Grałek
authors.forename: Krystyna H
authors.initials: KH
authors.lastname: Chrzanowska
authors.forename: Krystyna
authors.initials: K
authors.lastname: Kanigowska
authors.forename: Beata
authors.initials: B
authors.lastname: Kocyła-Karczmarewicz
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003941:Diagnostic Techniques, Ophthalmological; D005128:Eye Diseases / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D006801:Humans; D007905:Lens Diseases / Q000175:diagnosis / Q000209:etiology; D008297:Male; D049932:Nijmegen Breakage Syndrome / Q000150:complications* / Q000175:diagnosis; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology; D012307:Risk Factors; D014786:Vision Disorders / Q000175:diagnosis / Q000209:etiology; D055815:Young Adult