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. Here, MAB21L1 is linked to cataract.