Article
Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function.
PloS one - 1 Jan 2013
Orlin Anton, Sondhi Dolan, Witmer Matthew T, Wessel Matthew M, Mezey Jason G, Kaminsky Stephen M, Hackett Neil R, Yohay Kaleb, Kosofsky Barry, Souweidane Mark M, Kaplitt Michael G, D'Amico Donald J, Crystal Ronald G, Kiss Szilárd
Abstract excerpt
BACKGROUND: Late infantile neuronal ceroid lipofuscinosis (LINCL), one form of Batten's disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. The spectrum of ophthalmic manifestations of LINCL and the relationship with neurological function has not been previously described. METHODS: Patients underwent ophthalmic evaluations, including anterior segment and dilated exams, optical...
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