A syndrome of mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia. 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.