Mutations in KCNJ13 have been linked with two ocular disorders; (i) autosomal recessive Leber congenital amaurosis (LCA, MIM #614186) (Sergouniotis et al., 2011; Pattnaik et al., 2015; Perez-Roustit et al., 2017), and (ii) autosomal dominant snowflake vitreoretinal degeneration (SVD, MIM #193230) (Hejtmancik et al., 2008). This evidence concerns the gene KCNJ13 and Leber congenital amaurosis.