Half of the PITX3 variants, are represented by a single hot spot in exon 4 at c.640_656dup17bp; p.G220PfsX95 in the c-terminal region of the gene that causes mainly AD posterior polar cataracts and anterior segment dysgenesis in several families around the globe [58–64] (Fig. 3). Here, PITX3 is linked to Alzheimer disease.