title: The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1.
abstract: OBJECTIVE
  To evaluate the utility of screening brain/orbital magnetic resonance imaging (MRI) in a large population of children with neurofibromatosis type 1 (NF1) over a 20-year period.
  
  
  METHODS
  A retrospective analysis of clinical and imaging data from children with NF1 seen at a single center between 1990 and 2010 was performed.
  
  
  RESULTS
  During the 20-year study period, 826 individuals with NF1 (402 females, 424 males) ages 1-9 years were screened for optic pathway gliomas (OPGs) using brain/orbital MRI; 18% were identified with OPGs with a median age at detection of 3 years. Fifteen percent of patients with OPGs had radiologic or clinical progression requiring therapy. Children with chiasmatic and postchiasmatic tumors were more likely to require therapy compared with patients with prechiasmatic OPGs (P < .0001). Patients with visual deficits at the time of diagnosis were more likely to experience visual decline despite therapy when compared with patients treated based on radiologic progression (P < .012).
  
  
  CONCLUSIONS
  Our findings confirm that chiasmatic and postchiasmatic OPG in children with NF1 have the highest risk for progression and vision loss. Early identification of OPG by screening MRI prior to the development of vision loss may lead to improved visual outcomes. Children with negative brain and orbital MRI screening at age 15 months or later did not develop symptomatic OPGs.
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH; Center for Genomic Medicine and Metabolism, Fundación Cardiovascular de Colombia, Floridablanca, Colombia. Electronic address: carlos.prada@cchmc.org.
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Prada
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH.
authors.forename: Robert B
authors.initials: RB
authors.lastname: Hufnagel
authors.affiliation: University of Cincinnati College of Medicine, Cincinnati, OH; Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors.forename: Trent R
authors.initials: TR
authors.lastname: Hummel
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Lovell
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Hopkin
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH.
authors.forename: Howard M
authors.initials: HM
authors.lastname: Saal
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; University of Cincinnati College of Medicine, Cincinnati, OH.
authors.forename: Elizabeth K
authors.initials: EK
authors.lastname: Schorry
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D018450:Disease Progression; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications / Q000175:diagnosis*; D020339:Optic Nerve Glioma / Q000150:complications / Q000175:diagnosis*; D019574:Optic Nerve Neoplasms / Q000150:complications / Q000175:diagnosis*; D012189:Retrospective Studies; D014786:Vision Disorders / Q000150:complications / Q000175:diagnosis