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New Genetic Advances in Combating Childhood Glaucoma

New Genetic Advances in Combating Childhood Glaucoma

Written by btcls on .

Primary Congenital Glaucoma (PCG) is expected to be relatively common in Libya; however, no genetic screening programs currently exist, and data regarding its prevalence and associated pathogenic mutations remain limited.
This research aims to investigate variants in the CYP1B1 gene—specifically in exons II and III—as essential steps toward understanding the genetic basis of the disease.

The ultimate medical goal of the study is to support the development of a genetic screening program that enables early diagnosis and timely treatment of affected children before irreversible vision loss occurs. The study also seeks to explore the correlation between genetic mutations and disease severity.

Study Objectives

  1. Collect demographic data and medical histories of patients diagnosed with Primary Congenital Glaucoma.

  2. Identify mutations in exons II and III of the CYP1B1 gene in affected patients and their family members.