As shown in Table 1, among IHH-ascertained cases, ocular phenotypes were variable for both PTVs and missense alleles, with patients harboring SOX2 PTVs demonstrating severe ocular defects, including right amblyopia, strabismus, blindness, and bilateral anophthalmia (Table 1, cases 1 and 2). The gene discussed is IHH; the disease is Blindness.