PAX6 and Chorioretinal coloboma: No variants matching our filtering criteria or CNVs were detected in PAX6. Index patient 3[II:1] was diagnosed with anterior polar cataract and macular hypoplasia (grade 2) [34] in both eyes, iris and chorioretinal coloboma in the right eye, left congenital ptosis, syndactyly of the 4th and 5th toe, and hearing impairment (Figure 3D–F).