Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis.

ABSTRACT: CLN5 neuronal ceroid lipofuscinosis is a hereditary neurodegenerative disease characterized by progressive neurological decline, vision loss and seizures. Visual impairment in children with CLN5 disease is attributed to a progressive decline in retinal function accompanied by retinal degeneration as well as impaired central nervous system function associated with global brain atrophy. We studied visual system pathology in five Golden Retriever littermates homozygous for the CLN5 disease allele previously identified in the breed. The dogs exhibited signs of pronounced visual impairment by 21-22 months of age. Electroretinogram recordings showed a progressive decline in retinal function primarily affecting cone neural pathways. Altered visual evoked potential recordings indicated that diseas

SUBMITTER: Kick GR 

PROVIDER: S-EPMC8429270 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature