An intronic-exonic deletion of 425bp encompassing exon 30 and adjacent introns of CACNA1F resulted in the deletion of the TM domain and extracellular loop of Cav1.4α1 in a patient with Aland Island eye disease (AIED), a nearly identical disorder to CSNB2 [96]. Here, CACNA1F is linked to Aland island eye disease.