Case 2
The younger sibling of the proband presented at 1 year of age with complaints of watering BE. She had lush black hair until six months of age, followed by progressive hair loss. There was a prominent supraorbital ridge, depressed nasal bridge, high forehead, wide anterior fontanelle, and a prematurely aged look (Figure 2B1-4 ). She also had pseudoanodontia. Just like her elder sister, she had growth retardation, with her weight and length below the 3rd percentile for her age.
An EUA revealed BE horizontal corneal diameter of 13.5mm, along with the presence of a diffuse corneal haze in LE. She also had a central keratopathy in RE (Fig 2B2 ). Her IOP was 28mmHg in RE and 32mmHg in LE. An ultrasound biomicroscopy (UBM) revealed central corneal thickening and a thinned out iris and ciliary body. (Fig 2B4 ). She had a cup disc ratio of 0.6:1 in BE. For her BE trabeculectomy with ab externo trabeculotomy with mitomycin was performed. The surgery was uneventful, and she maintains normal IOP.