Article
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma.
Human molecular genetics - 15 Oct 2010
Chakrabarti Subhabrata, Ghanekar Yashoda, Kaur Kiranpreet, Kaur Inderjeet, Mandal Anil K, Rao Kollu N, Parikh Rajul S, Thomas Ravi, Majumder Partha P
Abstract excerpt
Primary congenital glaucoma (PCG) is a childhood autosomal-recessive disorder caused by developmental defects in the trabecular meshwork and anterior chamber angle. These defects cause raised intraocular pressure (IOP) that damages the optic nerve and if left untreated, results in irreversible blindness. Mutations in CYP1B1 gene at the GLC3A locus (2p21) are associated with PCG. However, there has been very...
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