MAB21L1 and coloboma: In this study, we present four individuals with unique heterozygous coding MAB21L1 variants, p.(Arg51Leu), p.(Arg62Cys), and p.(Gly220Arg), exhibiting microphthalmia in all, along with variable aniridia, coloboma, microcornea, lens defects (microspherophakia, cataracts) and nystagmus.