Previously, homozygous MAB21L1 variants (mainly truncations) in humans have been associated with a syndromic disorder including ocular features, primarily corneal dystrophy/opacities and nystagmus with variable additional eye anomalies, as well as facial dysmorphism, genital abnormalities, and cerebellar hypoplasia (Bruel et al., 2017; Rad et al., 2019). This evidence concerns the gene MAB21L1 and pathologic nystagmus.