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. The gene discussed is MAB21L1; the disease is pathologic nystagmus.