Spectrum of Ocular Manifestations in CLN2-Associated Batten (Jansky-Bielschowsky) Disease Correlate with Advancing Age and Deteriorating Neurological Function

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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3756041/
https://ncbi.nlm.nih.gov/pubmed/24015292
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0073128
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