AR Syndrome - Phenotypic Variability

This 8 year-old girl was born prematurely at 23 weeks of gestation. She had cloudy corneas in the first few weeks of life and IOP’s into the mid 40 range. She was diagnosed with primary congenital glaucoma. She had multiple surgeries for glaucoma. With time her iris took on a more hypoplastic look. She was also noted to be small for her age. Because of this she was tested for mutations in the PITX2 and FOXC1 genes. She was found to have a mutation in the FOXC1 gene that was shared by her mother (who had no glaucoma) and her brother (who had no known glaucoma but did have cardiac valve disease – which can be associated with FOXC1 mutations.