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Special Etiler Dunya Eye Hospital, Istanbul/TURKEY Primary congenital glaucomas are potentially blinding group of heterogeneous diseases. Congenital glaucoma is hereditary, with variable incidence in different populations. A greater incidence occurs in populations with higher rates of consanguinity. Our knowledge of the pathogenesis of PCG comes from enucleation or trabecular specimens from eyes with PCG, correlation studies of anterior chamber angle development in fetal eyes and interpretation of anomalies seen in PCG based on the stages of angle development, and genotype phenotype correlations. Advances in the field of molecular genetics have contributed significantly in identifying new genes associated with pediatric glaucoma. Identification of these genes has led to improvement of our understanding of the pathogenesis of congenital glaucoma.

This review summarizes current concepts regarding terminology, classification, epidemiology, and recent advances in basic science with an emphasis on the pathogenesis and genetics of congenital glaucoma. Keywords : Primary congenital glaucoma, epidemiology, genetics, pathophysiology