391
Views
22
CrossRef citations to date
0
Altmetric
Research Reports

Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life

, , , &
Pages 252-259 | Received 01 Mar 2016, Accepted 27 Jun 2016, Published online: 02 Aug 2016

References

  • Schulz A, Kohlschütter A, Mink J, et al. NCL diseases – clinical perspectives. Biochim Biophys Acta 2013;1832:1801–1806.
  • Williams RE, Aberg L, Autti T, et al. Diagnosis of the neuronal ceroid lipofuscinoses: an update. Biochim Biophys Acta 2006;1762:865–872.
  • Kollmann K, Uusi-Rauva K, Scifo E, et al. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta 2013;1832:1866–1881.
  • Preising MN, Lorenz B. Ophthalmologie und Genetik – Neuronale Zeroidlipofuszinosen (CLN). Ophtha 2015;2015:150–161.
  • Orlin A, Sondhi D, Witmer MT, et al. Spectrum of ocular manifestations in CLN2-associated Batten (Jansky-Bielschowsky) disease correlate with advancing age and deteriorating neurological function. PLoS One 2013;8:e73128.
  • Ehnes A, Wenner Y, Friedburg C, et al. Optical coherence tomography (OCT) device independent intraretinal layer segmentation. Transl Vis Sci Technol 2014;3:1
  • Marmor MF, Brigell MG, McCulloch DL, et al. ISCEV standard for clinical electro-oculography (2010 update). Doc Ophthalmol 2011;122:1–7.
  • Hood DC, Bach M, Brigell M, et al. ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition). Doc Ophthalmol 2012;124:1–13.
  • Palmer DN, Oswald MJ, Westlake VJ, et al. The origin of fluorescence in the neuronal ceroid lipofuscinoses (Batten disease) and neuron cultures from affected sheep for studies of neurodegeneration. Arch Gerontol Geriatr 2002;34:343–357.
  • Dulz S, Wagenfeld L, Nickel M, et al. Novel morphological macular findings in juvenile CLN3 disease. Br J Ophthalmol 2015; online first: doi:10.1136/bjophthalmol-2015-307320
  • Bensaoula T, Shibuya H, Katz ML, et al. Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease. Ophthalmology 2000;107:1746–1753.
  • Goebel HH, Fix JD, Zeman W. The fine structure of the retina in neuronal ceroid-lipofuscinosis. Am J Ophthalmol 1974;77:25–39.
  • Kelly JP, Weiss AH, Rowell G, et al. Autofluorescence and infrared retinal imaging in patients and obligate carriers with neuronal ceroid lipofuscinosis. Ophthalmic Genet 2009;30:190–198.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.