The ocular phenotype related to FOXC1 included aniridia, corneal opacity and early onset glaucoma, while an asymmetric ocular phenotype and aniridia were associated with PITX2.
Severe molecular consequences, including the inability of the W152G protein aggregates to form protective aggresomes, may underlie the aniridia phenotype that results from the FOXC1 W152G mutation.
After screening for mutations in PAX6, CYP1B1, and FOXC1, a novel FOXC1W152G mutation was identified in a newborn boy with aniridia and congenital glaucoma.