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English⧼Colon⧽ Optic nerve coloboma was severe in patients with PAX2 mutations.Representative images of coloboma scores 0–4 are shown in panel A. Score 0, normal optic disc; Score 1, optic disc dysplasia with an unusual pattern of the retinal vessels and cilioretinal arteries; Score 2, optic disc pit associated with vascular abnormalities and a cilioretinal artery; Score 3, large coloboma involving the entire surface of the optic disc; Score 4, large coloboma of the optic disc and adjacent retina, or morning glory anomaly (with radial emergence of the retinal vessels). The mean coloboma scores of each group are shown in panel B. The coloboma scores (total, right and left eye) were significantly higher in patients with PAX2 mutations. Values represent the mean ± SEM. *, p < 0.05 vs. coloboma scores of patients without PAX2 mutations. “RCS with PAX2 mutations” indicates clinically diagnosed renal-coloboma syndrome cases with PAX2 gene mutations (n = 11), “RCS without PAX2 mutations” indicates clinically diagnosed renal-coloboma syndrome cases without PAX2 gene mutations (n = 15), and “Coloboma only” indicates cases with optic nerve coloboma and no kidney abnormality (a disease control; n = 4)