The PAX2 p.(Gly84Ser) pathogenic variant detected in Family B in our cohort was once described by Bower et al. in a child, who presented with nystagmus and was later found to have bilateral optic nerve colobomas with pits, but no clinically apparent renal disease in the proband or his first-degree family members carrying the same variant [3]. This evidence concerns the gene PAX2 and coloboma of optic nerve.