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Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function.
Orlin A, Sondhi D, Witmer MT, Wessel MM, Mezey JG, Kaminsky SM, Hackett NR, Yohay K, Kosofsky B, Souweidane MM, Kaplitt MG, D'Amico DJ, Crystal RG, Kiss S. Orlin A, et al. PLoS One. 2013 Aug 28;8(8):e73128. doi: 10.1371/journal.pone.0073128. eCollection 2013. PLoS One. 2013. PMID: 24015292 Free PMC article. Clinical Trial.
Isolated foveal hypoplasia without nystagmus.
Giocanti-Aurégan A, Witmer MT, Radcliffe NM, D'Amico DJ. Giocanti-Aurégan A, et al. Int Ophthalmol. 2014 Aug;34(4):877-80. doi: 10.1007/s10792-014-9900-5. Epub 2014 Jan 19. Int Ophthalmol. 2014. PMID: 24442758
256 results