Two genes in the region have previously been associated with inherited retinopathies in humans; Spermatogenesis associated protein 7 (SPATA7) has been associated with juvenile RP and LCA [21], and tetratricopeptide repeat domain 8 (TTC8) with RP as well as Bardet-Biedl Syndrome (BBS) [22–24]. Here, TTC8 is linked to Leber congenital amaurosis.