title: Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease).
abstract: 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.
authors.affiliation: a Department of Ophthalmology .|b Department of Pediatrics , University of Iowa , Iowa City , IA , USA .
authors.forename: Arlene V
authors.initials: AV
authors.lastname: Drack
authors.affiliation: a Department of Ophthalmology .
authors.forename: Robert F
authors.initials: RF
authors.lastname: Mullins
authors.affiliation: a Department of Ophthalmology .
authors.forename: Wanda L
authors.initials: WL
authors.lastname: Pfeifer
authors.affiliation: c Department of Neurology , University of Rochester , Rochester , NY , USA .
authors.forename: Erika F
authors.initials: EF
authors.lastname: Augustine
authors.affiliation: a Department of Ophthalmology .|b Department of Pediatrics , University of Iowa , Iowa City , IA , USA .|d Division of Neurology .
authors.forename: Steven F
authors.initials: SF
authors.lastname: Stasheff
authors.affiliation: b Department of Pediatrics , University of Iowa , Iowa City , IA , USA .|e Division of Rheumatology , University of Iowa , Iowa City , IA , USA.
authors.forename: Sandy D
authors.initials: SD
authors.lastname: Hong
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D008562:Membrane Glycoproteins / Q000235:genetics; D018832:Molecular Chaperones / Q000235:genetics; D009173:Mycophenolic Acid / Q000031:analogs & derivatives* / Q000627:therapeutic use; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D010775:Photic Stimulation; D012162:Retinal Degeneration / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000187:drug effects
chemical_list: C105199:CLN3 protein, human; D007166:Immunosuppressive Agents; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D009173:Mycophenolic Acid
keywords: Juvenile Batten Disease; retinal degeneration; treatment