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.