title: Ocular manifestations of Noonan syndrome.
abstract: OBJECTIVE
  To describe the ophthalmological characteristics in a group of Noonan syndrome patients with proven mutations in the PTPN11 gene.
  
  
  METHODS
  Thirty-five Noonan syndrome patients with PTPN11 gene mutations underwent ophthalmological exams, which consisted of external inspection, slit-lamp biomicroscopy examination and an ophthalmoscopic examination after instillation of 1.0% tropicamide or 1.0% cyclopentolate.
  
  
  RESULTS
  All 35 patients had at least one abnormality upon ophthalmological examination. The eyelid and external eye abnormalities were the prevailing features, followed by prominent corneal nerves on slit-lamp exam. Fundus changes were detected in 8% of the subjects, mainly associated with high myopia. No statistically significant differences were observed among the patients presenting specific mutations in the PTPN11 gene.
  
  
  CONCLUSIONS
  The current study further supports the finding that ocular symptoms account for a large fraction of the clinical manifestations of NS. Additional characteristics are described here. The roles for the various mutations of PTPN11 in ocular development are yet to be established.
authors.affiliation: Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil. lenirpmarin@gmail.com
authors.forename: Lenina da Rocha Pitta
authors.initials: Lda R
authors.lastname: Marin
authors.forename: Felipe Theodoro Bezerra Gaspar Carvalho
authors.initials: FT
authors.lastname: da Silva
authors.forename: Luís Carlos Ferreira
authors.initials: LC
authors.lastname: de Sá
authors.forename: Amanda Salem
authors.initials: AS
authors.lastname: Brasil
authors.forename: Alexandre
authors.initials: A
authors.lastname: Pereira
authors.forename: Isabel Mosca
authors.initials: IM
authors.lastname: Furquim
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
authors.forename: Débora Romeo
authors.initials: DR
authors.lastname: Bertola
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11