Journal article
Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease)
Ophthalmic Genetics, Vol.36(4), pp.359-364
12/09/2015
DOI: 10.3109/13816810.2014.886271
PMID: 24547931
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.
Details
- Title: Subtitle
- Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease)
- Creators
- Arlene V Drack - Department of Pediatrics, University of IowaRobert F Mullins - Department of OphthalmologyWanda L Pfeifer - Department of OphthalmologyErika F Augustine - Department of Neurology, University of RochesterSteven F Stasheff - Division of NeurologySandy D Hong - Division of Rheumatology, University of Iowa
- Resource Type
- Journal article
- Publication Details
- Ophthalmic Genetics, Vol.36(4), pp.359-364
- Publisher
- Informa Healthcare
- DOI
- 10.3109/13816810.2014.886271
- PMID
- 24547931
- ISSN
- 1381-6810
- eISSN
- 1744-5094
- Language
- English
- Date published
- 12/09/2015
- Academic Unit
- Stead Family Department of Pediatrics; Rheumatology, Allergy, and Immunology; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980016402771
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