Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease). (9th December 2015)

• Record Type: Journal Article
• Authors: Drack, Arlene V.; Mullins, Robert F.; Pfeifer, Wanda L.; Augustine, Erika F.; Stasheff, Steven F.; Hong, Sandy D.
• Is Part Of: Ophthalmic genetics. Volume 36:Number 4(2015:Dec.)
• Page Start: 359
• Page End: 364
• Publication Date: 2015-12-09
• Subjects: Juvenile Batten Disease -- retinal degeneration -- treatment; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2014.886271
• Languages: English
• ISSNs: 1381-6810

Abstract

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.