NR2E3 and Bardet-Biedl syndrome: A large number of sequence variants as well as possible mutations in NR2E3 have been reported in patients with ESCS and other retinal phenotypes, which include autosomal dominant retinitis pigmentosa (ADRP), autosomal recessive RP (ARRP), Bardet-Biedl syndrome (BBS), clumped pigmentary retinal degeneration (CPRD), cone-rod dystrophy (CORD), and Goldmann-Favre syndrome (GFS) [9,13-24].