1. Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease)
- Author
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Robert F. Mullins, Erika F. Augustine, Sandy D. Hong, Arlene V. Drack, Steven F. Stasheff, and Wanda L. Pfeifer
- Subjects
Retinal degeneration ,medicine.medical_specialty ,Batten disease ,medicine.medical_treatment ,DNA Mutational Analysis ,Visual Acuity ,Dark Adaptation ,Biology ,Neuronal Ceroid-Lipofuscinoses ,Internal medicine ,Electroretinography ,medicine ,Humans ,Juvenile ,Child ,Genetics (clinical) ,Neuroinflammation ,Retrospective Studies ,Immunosuppressive treatment ,Membrane Glycoproteins ,Retinal Degeneration ,Neurodegeneration ,Immunosuppression ,Mycophenolic Acid ,medicine.disease ,Ophthalmology ,Endocrinology ,Pediatrics, Perinatology and Child Health ,Immunology ,Female ,Neuronal ceroid lipofuscinosis ,Immunosuppressive Agents ,Photic Stimulation ,Tomography, Optical Coherence ,Molecular Chaperones - 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.
- Published
- 2014
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