Since then a large number of CACNA1F LOF mutations, most of them protein-truncating variants, have been reported to be associated with CSNB2 as well as other eye disorders, including Åland Island Eye Disease, Cone-Rod Dystrophy, X-linked retinal disorder, and Night Blindness-Associated Transient Tonic Downgaze, which share a variety of clinical symptoms (Hope et al., 2005; Stockner and Koschak, 2013) (Table 1). This evidence concerns the gene CACNA1F and Åland Islands eye disease.