Journal
OPHTHALMIC GENETICS
Volume 36, Issue 4, Pages 359-364Publisher
TAYLOR & FRANCIS INC
DOI: 10.3109/13816810.2014.886271
Keywords
Juvenile Batten Disease; retinal degeneration; treatment
Categories
Funding
- Research to Prevent Blindness Physician-Scientist award
Ask authors/readers for more resources
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
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available