The genetics associated with Primary Congenital Glaucoma

Glaucoma is a progressive optic neuropathy; increased intraocular pressure (IOP) is a modifiable risk factor for primary congenital glaucoma (PCG). Increase IOP causes retinal and optic nerve compression and leads to gradual and irreversible loss of eyesight if left untreated. It is the second most leading cause of blindness. PCG mainly affects children up to the age of three years, and symptoms include epiphora, photalgia, swollen eyes, opaque corneas, blepharospasm, rupture in the retina and ocular nerve damage due to IOP. Early detection, management, and treatment are the keys to preventing vision loss from glaucoma. Many mutations have been discovered in Cytochrome P450 1B1 (CYP1B1) gene to be responsible for causing PCG, and there are still a lot of mutations to be discovered. In this review, we will discuss the genetic aspects of PCG and the most frequent mutations responsible for PCG in Pakistani children. PCG can be handled by decreasing IOP either by medication or by surgery. Genetic counselling plays a significant role in the establishment of proper management of PCG.Keywords: Primary Congenital Glaucoma; IOP; Cyp1b1; Mutation