title: Clinical neuro-ophthalmic findings in familial dysautonomia.
abstract: BACKGROUND
  To define the clinical neuro-ophthalmic abnormalities of patients with familial dysautonomia (FD).
  
  
  METHODS
  Sixteen patients (32 eyes) with the clinical and molecular diagnoses of FD underwent thorough neuro-ophthalmic clinical evaluation.
  
  
  RESULTS
  Visual acuity ranged from 0.05 to 1.0 decimal units and was reduced in 15 of 16 patients. Mild to moderate corneal opacities were found in most patients but were visually significant in only 2 eyes. Red-green color vision was impaired in almost all cases. Depression of the central visual fields was present on automated visual fields in all patients, even in those with normal visual acuity. Temporal optic nerve pallor was present in all cases and was associated with retinal nerve fiber layer loss in the papillomacular region. Various ocular motility abnormalities also were observed.
  
  
  CONCLUSIONS
  Patients with FD have a specific type of optic neuropathy with predominant loss of papillomacular nerve fibers, a pattern similar to other hereditary optic neuropathies caused by mutations either in nuclear or in mitochondrial DNA, affecting mitochondrial protein function. Defects of eye movements, particularly saccades, also appear to be a feature of patients with FD.
authors.affiliation: Dysautonomia Center, NYU Langone Medical Center, New York University, New York, NY, USA.
authors.forename: Carlos E
authors.initials: CE
authors.lastname: Mendoza-Santiesteban
authors.forename: Thomas R
authors.initials: TR
authors.lastname: Hedges
authors.forename: Lucy
authors.initials: L
authors.lastname: Norcliffe-Kaufmann
authors.forename: Floyd
authors.initials: F
authors.lastname: Warren
authors.forename: Shantan
authors.initials: S
authors.lastname: Reddy
authors.forename: Felicia B
authors.initials: FB
authors.lastname: Axelrod
authors.forename: Horacio
authors.initials: H
authors.lastname: Kaufmann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003941:Diagnostic Techniques, Ophthalmological; D004402:Dysautonomia, Familial / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination / Q000379:methods; D014786:Vision Disorders / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D014795:Visual Pathways / Q000473:pathology* / Q000503:physiopathology*; D055815:Young Adult