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

Kamron Khan | Zendy; Mohammed E. ElAsrag | Zendy; Cristy A. Ku | Zendy; Graham E. Holder | Zendy; Martin McKibbin | Zendy; Gavin Arno | Zendy; James A. Poulter | Zendy; Keren Carss | Zendy; Tejaswi Bommireddy | Zendy; Saghar Bagheri | Zendy; Benjamin Bakall | Zendy; Hendrik P. N. Scholl | Zendy; F. Lucy Raymond | Zendy; Carmel Toomes | Zendy; Chris F. Inglehearn | Zendy; Mark E. Pennesi | Zendy; Anthony T. Moore | Zendy; Michel Michaelides | Zendy; Andrew R. Webster | Zendy; Manir Ali | Zendy

Open Access

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

Author(s) -

Kamron Khan,

Mohammed E. ElAsrag,

Cristy A. Ku,

Graham E. Holder,

Martin McKibbin,

Gavin Arno,

James A. Poulter,

Keren Carss,

Tejaswi Bommireddy,

Saghar Bagheri,

Benjamin Bakall,

Hendrik P. N. Scholl,

F. Lucy Raymond,

Carmel Toomes,

Chris F. Inglehearn,

Mark E. Pennesi,

Anthony T. Moore,

Michel Michaelides,

Andrew R. Webster,

Manir Ali

Publication year - 2017

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.16-20608

Subject(s) - retinal , neuroscience , genetics , biology , medicine , ophthalmology

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 CLN7/MFSD8 mutation combinations were investigated in this study.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research