Article
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
Investigative ophthalmology & visual science - 1 Jun 2017
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
Abstract excerpt
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 CLN7/MFSD8 mutation combinations were investigated in this study. Methods: Affected patients and their family...
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