Glaucoma is a progressive optic neuropathy characterized by a degeneration of the optic nerve, which is usually associated with elevated intraocular pressure. The increase in intraocular pressure is probably caused by a reduction in outflow of aqueous humor through the trabecular outflow pathways. The degeneration of the optic nerve is the result of the loss of individual retinal ganglion cells, where the ganglion cells die by an apoptotic mechanism. The prevalence of primary congenital glaucoma varies across ethnic communities and geographical boundaries, ranging from 1 in 10,000-20,000 in the western populations to 1 in 2,500 and 1 in 1,250 in the Saudi Arabian and Gypsy populations of Slovakia, respectively.
More than 55 different mutations in the coding region of this gene have been identified in CYP1B1 to be causal for primary congenital glaucoma in different ethnic backgrounds and populations highlighting the allelic heterogeneity of the condition. Molecular modeling experiments suggest that mutations observed in primary congenital glaucoma patients interfere with the integrity of the CYP1B1 molecule as well as its ability to adopt a normal conformation and bind heme.
Noureddin et al (2006) described eight patients with primary congenital glaucoma who were managed with either viscoanalostomy or trabeculotomy. Only one of these patients had a positive family history.
Levy et al. (2005) analyzed the final outcome of surgery in 25 Arab Bedouin children with primary congenital glaucoma (PCG) presenting within the age of three months. Of the 45 eyes operated upon, 39 eyes (86.5%) were successfully surgically corrected. Cases with no family history showed a better rate of success.
Al-Zahrani (2002) reported a 5 and half year-old Saudi girl, born to first-degree consanguineous parents, who presented at birth with severe bilateral congenital glaucoma and ambiguous genitalia. Her 14-year-old brother had severe bilateral congenital glaucoma and lostvision in both eyes. In addition, her 10 and a half-year-old sister had ambiguous genitalia with large clitoris, no palpable gonads, and labioscrotal fusion. One of her first cousins had died at 4-months of age had ambiguous genitalia as well.
Al Talabani et al. (1998) studied the pattern of all major congenital malformations in 24,233 consecutive live and stillbirth at Corniche hospital, which is the only maternity hospital in Abu Dhabi, between January 1992 and January 1995. Two cases of primary congenital glaucoma in families from the United Arab Emirates were observed. Recurrence was not reported in other members of the families.