SNVs in genes strongly associated with ocular dysgenesis have been found in our cohort, including ACTA2, CYP1B1, FZD5, PXDN, PITX2, and TFAP2A. Besides PAX6, the second most altered gene in our cohort turned out to be ITPR1, whose either homozygous or heterozygous, dominant-negative, pathogenic variants are associated to the Gillespie syndrome—characterized by a triad of partial aniridia, non-progressive cerebellar ataxia, and intellectual disability [42]. Here, CYP1B1 is linked to aceruloplasminemia.