VSX2 variants can result in isolated AM, although complex cases often include cataracts, as well as iris abnormalities, retinal dystrophy and colobomas, and individual cases with systemic features have been reported, including developmental delay with behavioural problems, autism, cryptorchidism, ovarian defects, or hearing impairment, although no genotype–phenotype correlations have been identified [12,17]. Here, VSX2 is linked to coloboma.