A group of autosomal recessive retinal pigment diseases manifest at birth. Some classify it as the earliest form of Retinitis Pigmentosa. They are a common cause of retinal blindness in children. See OMIM 204000 and 600179 and Gregory M. Acland, et al. Gene therapy restores vision in a canine model of childhood blindness.
Females are less likely to be affected.
Central vision defects are predominant with centrocecal scotomata developing suddenly over a period of weeks or months. Presymptomatic colour vision loss has been described. Peripapillary microangiopathy is seen in acute stages on fundoscopy. This provokes a search for secondary genetic and environmental factors. Primary mutations are single mtDNA nucleotide replacements effecting the complexes of the respiratory electron transport chain.