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Ophthalmic Genet. 2015;36(4):359-64. doi: 10.3109/13816810.2014.886271. Epub 2014 Feb 19.

Immunosuppressive Treatment for Retinal Degeneration in Juvenile Neuronal Ceroid Lipofuscinosis (Juvenile Batten Disease).

Author information

1
a Department of Ophthalmology .
2
b Department of Pediatrics , University of Iowa , Iowa City , IA , USA .
3
c Department of Neurology , University of Rochester , Rochester , NY , USA .
4
d Division of Neurology .
5
e Division of Rheumatology , University of Iowa , Iowa City , IA , USA.

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.

KEYWORDS:

Juvenile Batten Disease; retinal degeneration; treatment

PMID:
24547931
DOI:
10.3109/13816810.2014.886271
[Indexed for MEDLINE]

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