PAX6 and pathologic nystagmus: For the AN2 c.607C>T/ p.(Arg203∗) variant in exon 8, predicted in the linker region between both DNA-binding domains, the closest reported missense is p.(Arg208Gln), detected in a mid-twenties (at the time of evaluation) female described to have mild symptoms (i.e., nystagmus, foveal hypoplasia, and early cataracts), but again, no ARK was reported.49