CEP290 and Bardet-Biedl syndrome: Among those genes, CEP290 accounted for the highest proportion of pathogenic alleles in cases (AC = 12, Fig. 1b), which was reported to cause Bardet–Biedl syndrome [MIM: 615991] and Leber congenital amaurosis [MIM: 611755] with early-onset retinal degeneration20.