Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract

“…The identified variant in the PAX6 gene (NM_001258462.1: c.[52G>A]; family 13) showed anterior polar cataract associated with iris anomaly and macular hypoplasia, a similar but less severe phenotype than previously described . This confirms the high phenotype variability associated with variants in the PAX6 gene …”

“…1: c.[52G>A]; family 13) showed anterior polar cataract associated with iris anomaly and macular hypoplasia, a similar but less severe phenotype than previously described. 36,51,52 This confirms the high phenotype variability associated with variants in the PAX6 gene. 53,54 Syndromic cataracts were identified in 4 of 25 of our families (16%) with either NHS or OFCD syndrome.…”