Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease)

Ophthalmic Genet. 2015;36(4):359-64. doi: 10.3109/13816810.2014.886271. Epub 2014 Feb 19.


Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) presents with progressive vision loss at 4-7 years of age. Blindness results within 2 years, followed by inexorable neurologic decline and death. There is no treatment or cure. Neuroinflammation is postulated to play a role in the neurodegeneration. The JNCL mouse model demonstrated decreased neuroinflammation and improved motor skills with immunosuppression. Based on this work, a short-term human clinical trial of mycophenolate mofetil has begun, however longer term effects, and whether immunosuppression modulates vision loss, have not been studied. We report a JNCL patient treated with immunosuppressive therapy in whom visual function was comprehensively characterized over 2 years.

Keywords: Juvenile Batten Disease; retinal degeneration; treatment.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • DNA Mutational Analysis
  • Dark Adaptation
  • Electroretinography
  • Female
  • Humans
  • Immunosuppressive Agents / therapeutic use*
  • Membrane Glycoproteins / genetics
  • Molecular Chaperones / genetics
  • Mycophenolic Acid / analogs & derivatives*
  • Mycophenolic Acid / therapeutic use
  • Neuronal Ceroid-Lipofuscinoses / diagnosis
  • Neuronal Ceroid-Lipofuscinoses / drug therapy*
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Photic Stimulation
  • Retinal Degeneration / diagnosis
  • Retinal Degeneration / drug therapy*
  • Retinal Degeneration / genetics
  • Retrospective Studies
  • Tomography, Optical Coherence
  • Visual Acuity / drug effects


  • CLN3 protein, human
  • Immunosuppressive Agents
  • Membrane Glycoproteins
  • Molecular Chaperones
  • Mycophenolic Acid