title: Menkes disease. New ocular and electroretinographic findings.
abstract: OBJECTIVE
  The authors describe new ocular and electroretinographic (ERG) features in Menkes disease.
  
  
  METHODS
  The study design is a case report.
  
  
  METHODS
  The authors studied two patients with Menkes disease.
  
  
  METHODS
  The authors performed complete ophthalmologic and ERG evaluations in both patients.
  
  
  METHODS
  The parameters used were slit-lamp biomicroscopy and ERG recordings.
  
  
  RESULTS
  Aberrant lashes and anterior stromal hypoplasia of the iris are new findings, and profound delays in b-wave implicit time in well-developed photopic responses may be added as new ERG features.
  
  
  CONCLUSIONS
  Patients with Menkes disease may have aberrant lashes, anterior stromal hypoplasia, and retinal degeneration.
authors.affiliation: Department of Ophthalmology, Federal University of São Paulo, Brazil.
authors.forename: R C
authors.initials: RC
authors.lastname: Ferreira
authors.forename: J R
authors.initials: JR
authors.lastname: Heckenlively
authors.forename: J H
authors.initials: JH
authors.lastname: Menkes
authors.forename: J B
authors.initials: JB
authors.lastname: Bateman
mesh_terms: D004596:Electroretinography; D005124:Eye Abnormalities / Q000175:diagnosis*; D005140:Eyelashes / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis*; D009887:Ophthalmoscopy; D012160:Retina / Q000503:physiopathology; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000503:physiopathology