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,.