Kir7.1 mutations have also been associated with Leber’s Congenital Amaurosis (LCA), which, together with the SVD findings, suggests that this ion channel plays an important role in eye disease [50], and by extrapolation, in diseases associated with other organ systems where Kir7.1 channels may influence tissue function [51]. The gene discussed is KCNJ13; the disease is Leber congenital amaurosis.