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

Researchers 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.