PIKFYVE and cataract: As shown in Figure 2A, in contrast to the healthy control, the PIKFYVE gene in the cataract patients carried a G to A heterozygous substitution in the 39th exon, which leads to the replacement of a highly conserved amino acid glycine (G) by glutamate (E) at position 1943 in the PIPK domain (Figure 2B and C).