title: Usefulness of systematic ophthalmologic investigations in neurofibromatosis 1: a cross-sectional study of 211 patients.
abstract: OBJECTIVE
  To evaluate the usefulness of ophthalmologic examination for diagnosis and for detection of complications in adult patients with neurofibromatosis 1.
  
  
  METHODS
  PATIENTS with at least one criterion of neurofibromatosis 1 (excluding ophthalmologic criteria) seen at a referral centre had a systematic ophthalmologic examination including best-corrected visual acuity, slit-lamp examination and dilated funduscopy. The ophthalmologist was unaware of all other anamnestic data.
  
  
  RESULTS
  
  
  
  METHODS
  211 patients with NF1 were included (mean age: 32 +/- 14 yr.). Ophthalmologic examination in neurofibromatosis 1 patients: Lisch nodules (n = 185) (87.7%); choroidal hamartomas (n = 61) (29%); enlarged corneal nerves (n = 1); 3 plexiform neurofibromas (n = 3); symptomatic optic pathway gliomas (n = 5). Diagnostic contribution of presence of Lisch nodules: 6 (3%) of 211 patients. Detection of complications: none.
  
  
  CONCLUSIONS
  In adult patients with neurofibromatosis 1, the contribution of ophthalmologic examination to diagnosis and to the detection of complications is low. Ophthalmologic examination should be performed in patients for whom questioning and clinical examination failed to give evidence of NF1 or to determine the NF subtypes.
authors.affiliation: Department of Dermatology, Henri-Mondor Hospital, Paris XII University, Créteil Cedex, France.
authors.forename: V
authors.initials: V
authors.lastname: Arigon
authors.forename: M
authors.initials: M
authors.lastname: Binaghi
authors.forename: C
authors.initials: C
authors.lastname: Sabouret
authors.forename: J
authors.initials: J
authors.lastname: Zeller
authors.forename: J
authors.initials: J
authors.lastname: Revuz
authors.forename: G
authors.initials: G
authors.lastname: Soubrane
authors.forename: P
authors.initials: P
authors.lastname: Wolkenstein
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D003941:Diagnostic Techniques, Ophthalmological / Q000592:standards*; D005128:Eye Diseases / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications*