Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

PURPOSE. Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel...

Full description

Bibliographic Details
Main Authors: Khan, Kamron N., El-Asrag, Mohammed E., Ku, Cristy A., Holder, Graham E., McKibbin, Martin, Arno, Gavin, Poulter, James A., Carss, Keren, Bommireddy, Tejaswi, Bagheri, Saghar, Bakall, Benjamin, Scholl, Hendrik P., Raymond, F. Lucy, Toomes, Carmel, Inglehearn, Chris F., Pennesi, Mark E., Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Ali, Manir
Other Authors: Univ Arizona, Coll Med
Language:en
Published: ASSOC RESEARCH VISION OPHTHALMOLOGY INC 2017
Subjects:
macular degeneration
retinal dystrophy
DNA sequencing
electroretinography
immunohistology
photoreceptor synapse
Online Access:http://hdl.handle.net/10150/624955
http://arizona.openrepository.com/arizona/handle/10150/624955

Internet

http://hdl.handle.net/10150/624955
http://arizona.openrepository.com/arizona/handle/10150/624955

Similar Items