For example, a stop-gain variant (NM_020366:exon13:c.T1736A:p.L579X) in RPGRIP1, an autosomal recessive gene accounting for about 5% of Leber congenital amaurosis and also associated with cone-rod dystrophy and retinitis pigmentosa, was found in six heterozygous macaques (Supplementary Fig. 3a). Here, RPGRIP1 is linked to Leber congenital amaurosis.