MYOC : myocilin

The MYOC Gene: Unraveling the Secrets of Intraocular Pressure

Description

Nestled within the human genome lies the MYOC gene, a genetic blueprint for producing a protein named myocilin. This protein resides in the delicate structures of the eye, particularly the trabecular meshwork and ciliary body, playing a crucial role in regulating intraocular pressure (IOP) – the pressure within the eye.

Associated Diseases

Mutations in the MYOC gene have been linked to a condition known as primary open-angle glaucoma (POAG), a major cause of irreversible blindness worldwide. These mutations disrupt the normal function of myocilin, leading to increased IOP and optic nerve damage.

Did you Know ?

Approximately 3 million people in the United States have POAG, making it the second leading cause of blindness after macular degeneration. MYOC mutations account for about 3% to 5% of POAG cases.