Exploring Genetic Determinants of Primary Congenital Glaucoma in Pakistani Cohorts
Review Article
DOI:
https://doi.org/10.31580/pjmls.v8i1.3192Keywords:
CYP1B1, Disease spectrum, Glaucoma, Inherited eye disorder, Pakistani population, Primary congenital glaucomaAbstract
Glaucoma is the second leading cause of blindness, affecting approximately 65 million people globally. Primary congenital glaucoma (PCG) is an inherited disorder during the development of the eye especially in the anterior chamber angle and trabecular meshwork. It causes irreversible childhood blindness due to an increase in intra-ocular pressure, corneal opacity, and optic nerve damage. PCG is inherited as an autosomal recessive and autosomal dominant form. The three most common genes are Human cytochrome P450 1B1 (CYP1B1), Latent transforming growth factor beta binding protein 2 (LTBP2), and Tunica interna endothelial receptor tyrosine kinase (TEK) have been associated with disease phenotype. The most screened gene for genetic analysis of PCG in Pakistani families is CYP1B1 in the autosomal mode of inheritance. It accounts for 50% of mutations in the affected individuals. Mutations in LTBP2 were reported in families which had not been identified for any mutation in CYP1B1. No data is available in Pakistan for TEK mutations. This review manifests the importance of variant studies to investigate the etiology of disease at a molecular level. It focuses on how family history and consanguineous marriages contribute to the high rate of primary congenital glaucoma in Pakistani families. Many studies will help us to understand the spectrum of PCG in any demographic location and manufacturing diagnostic kits for early detection of PCG in Pakistan. Early diagnosis of PCG and Genetic counseling of families can be a preventive measure for this phenotype.
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