We report the first screen of patients manifesting with severe developmental eye anomalies for disease-causing variations in FOXC1. Since deletions of FOXC1 have been associated with microphthalmia [23], an investigation into the role of FOXC1 in producing developmental eye defects distinct from those previously associated with the mutation in this gene is important to enable us to delimit its effect. Here, FOXC1 is linked to developmental defect of the eye.