HES5 and microphthalmia: Both our data and previous studies show dysregulation of early ocular GRNs due to reduced expression of early ocular genes such as RAX, HES5, SIX6, and LHX5. In contrast, LHX5 was downregulated in our microphthalmia patients but upregulated in VSX2-associated microphthalmia (Phillips et al., 2014).