Mutations in KCNJ13 have been linked with two ocular disorders; (i) autosomal recessive Leber congenital amaurosis (LCA, MIM #614186), a severe early onset retinal dystrophy with RPE and photoreceptor loss causing blindness from birth9–11, and (ii) autosomal dominant snowflake vitreoretinal degeneration (SVD, MIM #193230), a disorder characterized by a fibrillar vitreous degeneration and crystalline-like deposits in the retina6. This evidence concerns the gene KCNJ13 and snowflake vitreoretinal degeneration.