Foveal Hypoplasia Grading in 95 Cases of Congenital Aniridia: Correlation to Phenotype and PAX6 Genotype

•PAX6-positive patients presented higher degree of foveal hypoplasia than PAX6-negative patients.•All types of PAX6 variants are at risk for severe foveal hypoplasia, except for deletions restricted to the 3′ flanking regulatory regions.•The degree of foveal hypoplasia was most frequently correlated with the severity of iris defects.•Among eyes with mild iris phenotype, 74% presented severe foveal hypoplasia.