Similar defects are observed in an LCA patient with compound heterozygous (c.314G>T; p.Ser105Ile and c.655C>T; p.Gln219X) mutation [182] and in a patient with vitreoretinal dystrophy with early-onset cataract which is homozygous for a missense mutation (c.359T>C; p.Ile120Thr) in KCNJ13 [183]. Here, KCNJ13 is linked to Leber congenital amaurosis.