Case 1 (Proband)
A 4year old girl, born of a consanguineous marriage, presented to our
glaucoma clinic with chief complaints of watering and an asymmetric
corneal enlargement of the right eye (RE). Physical examination revealed
progressive frontal alopecia with a receding hairline, frontal bossing,
high forehead, prominent supraorbital ridges, depressed nasal bridge,
anteverted nostrils, long philtrum, umbilical hernia, sparse eyebrows,
and an appearance of premature aging (Figure 2A1-4 ). Intraoral
examination revealed the absence of a regular dentition pattern
(Figure 2A3 ); a radiograph of the teeth revealed impacted
dentition, confirming pseudoanodontia. Her weight (12kg) and height
(92cm) were below the 3rd percentile. The patient’s mental status was
found to be normal, and there was no developmental delay.
Examination under anesthesia (EUA) revealed RE enlarged corneal
diameters with an IOP of 30mmHg, with corneal edema precluding a
detailed anterior and posterior segment evaluation. Her left eye (LE)
had a clear cornea with an IOP of 16mmHg. The patient was taken up for
RE trabeculectomy with mitomycin. On subsequent EUA (post-operatively),
when the cornea had cleared up, the anterior segment evaluation revealed
the presence of Haab’s striae and peripheral keratopathy with
irido-corneal adhesions that were seen on an ASOCT examination in the RE
(Figure 2A3, 2A4 ). Her optic disc examination showed a vertical
cup disc ratio (CDR) of 0.4:1 with temporal disc pallor in RE; while LE
showed a healthy disc with a CDR of 0.2:1. Eventually, she developed
increased IOP in her LE, for which she was taken up for LE
trabeculectomy with mitomycin, three years after the RE surgery. Her
IOPs have been controlled in both eyes (BE) ever since.
A USG abdomen revealed the presence of normal kidneys and ovaries. An
MRI of the brain did not detect any intracranial abnormality. Other
investigations were normal, including complete blood counts, serum and
urine biochemistry, hormonal assays and echocardiography,.