May 2006
Volume 47, Issue 13
ARVO Annual Meeting Abstract  |   May 2006
Rapid Visual Loss Arising from Juvenile Neuronal Ceroid Lipofuscinosis (JNCL or Batten Disease) in Three School–Age Children
Author Affiliations & Notes
  • W.–H. Lee
    Ophthalmology, Bascom Palmer Eye Institute, Miami, FL
  • W.R. Green
    Ophthalmology, Johns Hopkins Wilmer Eye Institute, Baltimore, MD
  • K.B. Sims
    Neurology, Harvard Medical School, Boston, MA
  • J.S. Sunness
    Ophthalmology, Hoover Rehabilitation Services for Low Vision and Blindness, Greater Baltimore Medical Center, Baltimore, MD
  • Footnotes
    Commercial Relationships  W. Lee, None; W.R. Green, None; K.B. Sims, None; J.S. Sunness, None.
  • Footnotes
    Support  In part by the Research to Prevent Blindness Physician Scientist Merit Award (JSS).
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 3255. doi:
  • Views
  • Share
  • Tools
    • Alerts
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      W.–H. Lee, W.R. Green, K.B. Sims, J.S. Sunness; Rapid Visual Loss Arising from Juvenile Neuronal Ceroid Lipofuscinosis (JNCL or Batten Disease) in Three School–Age Children . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3255.

      Download citation file:

      © ARVO (1962-2015); The Authors (2016-present)

  • Supplements

Purpose: : To report 3 children with rapid severe central visual loss and retinal degeneration, unaccompanied by clear neurological symptoms or signs, who were diagnosed with JNCL by conjunctival biopsy and DNA analysis; one of whom demonstrated rapid narrowing in retinal arterioles 3 months later.

Methods: : Prospective, observational case series of 3 unrelated healthy school–age children with rapid central visual loss. Clinical evalulations included slit lamp examination, examination under anesthesia (EUA), Goldmann visual field testing or scanning laser ophthalmoscopy (SLO), fluorescein angiography (FA), electroretinogram (ERG), histologic and ultrastructural evaluation of conjunctival biopsy specimen, and DNA analysis.

Results: : All 3 children (ages 5, 8, and 7) had a history of rapid progressive visual loss over a few months. Visual acuities at presentation to the Wilmer Eye Institute were 20/250 OU in the first child, 20/800 OD and 20/200 OS in the second, and 3/200 OU in the third. No relative afferent pupillary defect was detected. SLO revealed eccentric fixation OU in the first child, and visual fields showed large central scotomata OU in the other two. EUA disclosed minimal disc pallor, dull foveal reflex, pigmentary changes in the macula, markedly attenuated retinal arterioles, no flecks, and non–specific peripheral pigmentary changes OU in all 3 children. In the first child, further narrowing of the retinal arterioles was observed 3 months later. FA demonstrated window defects in the maculas, and ERG was severely reduced. Conjunctival biopsy revealed cytoplasmic curvilinear and finger–print inclusion bodies. DNA analysis demonstrated a 1.03–kb homozygous CLN3 deletion in the first child, a 1.03–kb heterozygous CLN3 deletion in the second, and a homozygous, mononucleotide insertion mutation in exon 5 of CLN3 in the third.

Conclusions: : JNCL is a lysosomal storage disorder characterized by progressive dementia, seizures, and early fatality. The differential diagnosis for abrupt severe visual loss in children must include JNCL, as visual loss may be the first sign of this degenerative neurological disorder, and conjunctival biopsy may be diagnostic. To our knowledge, the rapid change in retinal arteriolar narrowing over a 3–month period was demonstrated for the first time by clinical appearance in JNCL in one of the 3 cases .

Keywords: degenerations/dystrophies 

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.