الفهرس 
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Abstract
P
rimary congenital glaucoma is a common cause of childhood blindness characterized by progressive loss of ganglion cell layer due to elevated intraocular pressure secondary to trabeculodysgenesis. This can impair the ocular perfusion pressure and disrupts the axoplasmic transport at the optic nerve head leading to progressive cupping. Surgery has been the traditional treatment to salvage vision provided that early diagnosis has been established. Genetic testing can provide a diagnostic tool.
This study was done to screen for CYP1B1 gene disease causing mutations in PCG patients undergoing surgery, and to correlate the genotype identified to the disease severity and surgical outcome.
The study was conducted on 39 eyes of 24 PCG patients who were presented to ophthalmology outpatient clinic of Ain shams university hospitals with PCG. The patients were grouped into 2 subgroups according to the genotype identified. group A and B.
All subjects underwent: medical history taking, EUA for Intraocular pressure measurement, fundus examination. Trabeculotomy was the initial surgical procedure. Patients were then followed up at a 3 month interval. Patients with uncontrolled IOP underwent SST. CYP1B1 gene coding exons were screened by sequencing. Genotype phenotype correlation was performed between group A and B.
The results revealed statistically significant relation between the disease causing mutations and surgical failure. group A had statistically significant higher consanguinity and family history, and earlier age at presentation. They also had higher need for medications at last visit, and higher need for second surgical intervention. Higher female: male ratio, more incidence of bilateral disease, more corneal edema at presentation was also present in group A but didn’t reach statistical significance. No statistically significant difference was found between the 2 groups in the mean horizontal corneal diameter at presentation.
A novel CYP1B1 mutation was detected in our group that could be specific to the Egyptian population. And further studies are required to determine the effects of this novel mutation on the prognosis of PCG.
CYP1B1 gene mutations appear likely to increase the risk of POAG and adult-onset glaucoma. The individuals included in this study may require long term ophthalmological follow-up to detect early disease symptoms
In summary, gene screening assists early diagnosis that is crucial to prevent blindness from PCG. Identification of frequent mutations has economic benefit when selecting genetic test and the genotype-phenotype correlation will assist in better identification of factors that may be respon¬sible for suppressing or worsening the disease phenotype.