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Vision loss caused by photoreceptor death represents one of the first symptoms in neuronal ceroid lipofuscinosis, a condition characterized by accumulation of intracellular waste. Cln6nclf mice have a naturally occurring mutation in ceroid-lipofuscinosis neuronal (CLN) protein 6 and are a model of this disorder. In order to identify the effect intracellular waste (lipofuscin) accumulation plays in driving retinal degeneration, the time course of degeneration was carefully characterized functionally using the electroretinogram and structurally using histology.

investigative ophthalmology and visual science

Failure of Autophagy–Lysosomal Pathways in Rod Photoreceptors Causes the Early Retinal Degeneration Phenotype Observed in<i>Cln6<sup>nclf</sup></i>Mice

Failure of Autophagy–Lysosomal Pathways in Rod Photoreceptors Causes the Early Retinal Degeneration Phenotype Observed inCln6nclfMice

Failure of Autophagy–Lysosomal Pathways in Rod Photoreceptors Causes the Early Retinal Degeneration Phenotype Observed inCln6^nclfMice