Achromatopsia is an autosomal recessive, pan-ethnic disease caused by pathogenic variants in the CNGB3 gene. Individuals affected with this disease have partial or complete loss of color vision and can only see in black, white, or shades of grey. Onset of the condition is typically in infancy. Other symptoms relating to vision, including light sensitivity, abnormal eye movements and low visual acuity may also be present. Individuals with incomplete achromatopsia have limited color vision and less severe visual manifestations. Progressive cone dystrophy has been described in some individuals and is characterized by photophobia and a decrease in central vision and color detection. Life expectancy is normal, and no genotype-phenotype correlation has been reported.
For information about carrier frequency and residual risk, please see the residual risk table.