MYOC antibodies target myocilin, a glycoprotein encoded by the *MYOC* gene, primarily expressed in ocular tissues, particularly the trabecular meshwork (TM) and ciliary body. Myocilin plays a role in maintaining intraocular pressure (IOP) homeostasis, though its precise physiological function remains unclear. Mutations in *MYOC* are linked to hereditary primary open-angle glaucoma (POAG), a leading cause of irreversible blindness. Over 100 *MYOC* variants, predominantly missense mutations, are associated with elevated IOP due to impaired aqueous humor outflow.
Pathogenic *MYOC* mutations often cause protein misfolding, leading to endoplasmic reticulum (ER) stress, TM cell dysfunction, and apoptosis. MYOC antibodies are primarily used in research to detect myocilin expression, localization, and aggregation in cellular or tissue models, aiding in elucidating its pathological mechanisms. Some studies explore therapeutic strategies using antibodies to neutralize mutant myocilin or enhance its clearance, though clinical applications remain experimental.
Despite progress, challenges persist in understanding myocilin's normal function and its transition to a toxic agent in glaucoma. MYOC antibodies thus serve as critical tools for advancing molecular diagnostics and targeted therapies for *MYOC*-related glaucoma.