Myocilin-associated Glaucoma: A Historical Perspective and Recent Research Progress.

Abstract

Glaucoma a debilitating disease, is globally the second most common kind of permanent blindness. Primary open-angle glaucoma (POAG) is its most prevalent form and is often linked with alterations in the myocilin gene (<i>MYOC</i>). <i>MYOC</i> encodes the myocilin protein, which is expressed throughout the body, but primarily in trabecular meshwork (TM) tissue in the eyes. TM is principally involved in regulating intraocular pressure (IOP), and elevated IOP is the main risk factor associated with glaucoma. The myocilin protein's function remains unknown; however, mutations compromise its folding and processing inside TM cells, contributing to the glaucoma phenotype. While glaucoma is a complex disease with various molecules and factors as contributing causes, the role played by myocilin has been the most widely studied. The current review describes the present understanding of myocilin and its association with glaucoma and aims to shift the focus toward developing targeted therapies for treating glaucoma patients with variations in <i>MYOC</i>.