Article
Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.
Experimental eye research - 1 May 2015
Whiting Rebecca E H, Pearce Jacqueline W, Castaner Leilani J, Jensen Cheryl A, Katz Rebecca J, Gilliam Douglas H, Katz Martin L
Abstract excerpt
The CLN2 form of neuronal ceroid lipofuscinosis is an autosomal recessively inherited lysosomal storage disease that is characterized by progressive vision loss culminating in blindness, cognitive and motor decline, neurodegeneration, and premature death. CLN2 disease results from mutations in the gene that encodes the soluble lysosomal enzyme tripeptidyl peptidase-1. A null mutation in the TPP1 gene encoding...
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