title: Vision loss as the presenting sign in juvenile neuronal ceroid lipofuscinosis.
abstract: OBJECTIVE
  To review cases of juvenile neuronal ceroid lipofuscinosis (JNCL) and highlight salient clinical and diagnostic features, thereby enhancing recognition of this disease among ophthalmologists.
  
  
  METHODS
  Twelve cases of JNCL seen from 1982 to 1999 were reviewed. Diagnosis was based on characteristic clinical history, ophthalmoscopic findings, electroretinography, neuroimaging, histopathology, and molecular analysis.
  
  
  RESULTS
  Vision loss was the first subjective symptom of the disease in all 12 cases. Among these cases, nine of 12 patients (75%) developed neurologic deficits an average of 3 years after the onset of visual deterioration.
  
  
  CONCLUSIONS
  Because visual symptoms usually precede neurologic dysfunction, JNCL should be considered in the differential diagnosis when an apparently healthy child presents with unexplained bilateral vision loss.
authors.affiliation: Cullen Eye Institute, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: L I
authors.initials: LI
authors.lastname: Bohra
authors.forename: J S
authors.initials: JS
authors.lastname: Weizer
authors.forename: A G
authors.initials: AG
authors.lastname: Lee
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
mesh_terms: D017668:Age of Onset; D001766:Blindness / Q000175:diagnosis*; D002566:Ceroid / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D003228:Conjunctiva / Q000737:chemistry; D004596:Electroretinography; D005260:Female; D006801:Humans; D007223:Infant; D007361:Intelligence Tests; D008062:Lipofuscin / Q000032:analysis; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis*; D009887:Ophthalmoscopy; D014792:Visual Acuity
chemical_list: D002566:Ceroid; D008062:Lipofuscin