Photoreceptor cell death leads to blindness in CLN5 form of Neuronal Ceroid Lipofuscinosis

Researchers from the University of Eastern Finland have discovered a likely cause for visual impairment and eventual loss of vision in the Finnish variant of Neuronal Ceroid Lipofuscinosis (NCL).  Visual impairment associated with the Finnish variant of NCL may be caused by impaired retinal waste management system, including autophagy, leading primarily to the death of photoreceptor cells that are of essential for vision.  The NCLs are the most common neurodegenerative disease group among children. NCL diseases constitute part of the Finnish disease heritage and they are more common in