Figure 1. Pedigrees and genetic analysis. A: Pedigree of the families recruited. Round symbols indicate female; square, male; diamond, unspecified gender; fully filled symbols, aniridia; unfilled symbols, unaffected; arrow, proband; plus/minus, presence/absence of the familial PAX6 variant. B: PAX6: c.238_241dupACTC, p.(Pro81HisfsTer12) sequence variant in affected individual 1c (at the top) and her unaffected grandparents 1d and 1e (at the bottom). The black arrow marks the heterozygous variant.