title: OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS.
abstract: OBJECTIVE
  To report optical coherence tomography findings obtained in two patients with juvenile neuronal ceroid lipofuscinosis.
  
  
  METHODS
  Two case reports.
  
  
  RESULTS
  Two 7-year-old girls presented with decreased visual acuity, clumsiness, night blindness, and behavioral problems. Optical coherence tomography showed an overall reduction in thickness of the central retina, as well as the outer and the inner retinal layers. The degenerative retinal changes were the same, despite different mutations in the CLN3 gene.
  
  
  CONCLUSIONS
  In these rare cases of juvenile neuronal ceroid lipofuscinosis, optical coherence tomography enabled unambiguous detection of prominent morphologic abnormalities of the retina at the patient's first presentation. The advanced stage of photoreceptor degeneration seen in our patients shows that a diagnosis can potentially be made much earlier.
authors: *Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark; †Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark; and ‡Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
authors: Michael S
authors: MS
authors: Hansen
authors: Marianne N
authors: MN
authors: Hove
authors: Hanne
authors: H
authors: Jensen
authors: Michael
authors: M
authors: Larsen
mesh_terms: D002648:Child; D002829:Choroid / Q000473:pathology*; D004596:Electroretinography; D005260:Female; D006801:Humans; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000503:physiopathology; D012160:Retina / Q000473:pathology* / Q000503:physiopathology; D041623:Tomography, Optical Coherence / Q000379:methods*; D014792:Visual Acuity