Correlation between genotype and phenotype in adult primary open angle Glaucoma and mutations in myoc gene

Glaucoma is a second leading cause of blindness worldwide and stands on fourth position among the cause of blindness. Two main types of Glaucoma, primary congenital Glaucoma (PCG) and primary open angle Glaucoma (POAG). Primary open angle Glaucoma is further classified in to primary juvenile open angle Glaucoma JOAG (age of onset 3-35 years) and adult onset open angle Glaucoma (after the age of 35 years). Myocilin (MYOC) gene plays a major role in the development of adult primary open angle Glaucoma (POAG). Mutations in Myocilin (MYOC) gene are well documented to cause Adult Primary Open Angle Glaucoma (POAG). Currently, very few data is available on the contribution of Myocilin (MYOC) gene in POAG in Pakistani population. In present study, fifty seven sporadic cases of autosomal recessive samples of Primary Open Angle Glaucoma (POAG) were collected from different hospitals of Lahore, Pakistan. Sequencing was performed to check the contribution of (MYOC) gene and to identify the common mutations present in Pakistani population. Sequencing results revealed previously reported one heterozygous synonymous single nucleotide polymorphism SNP and a variant in intronic exonic boundary of exon 2. Findings of this study revealed that contribution of (MYOC) gene is high. Therefore, there is need to enroll more patients and families to identify the pathogenic mutations in (MYOC) gene to report actual frequency of this gene and its mutations in our population. Mutations identified in this gene may be helpful at clinical level to diagnose the disease at early stages.