期刊
OPHTHALMIC GENETICS
卷 36, 期 4, 页码 359-364出版社
TAYLOR & FRANCIS INC
DOI: 10.3109/13816810.2014.886271
关键词
Juvenile Batten Disease; retinal degeneration; treatment
资金
- Research to Prevent Blindness Physician-Scientist award
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.
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