Gene editing treatment for glaucoma linked to myocilin

Dominant gain-of-function mutations in the myocilin gene are reported in approximately 4% of primary open-angle glaucoma cases.

• Elevated intraocular pressure is a significant risk factor for irreversible vision loss in glaucoma.
• Mutant myocilin proteins cause misfolding, resulting in stress within the cells that regulate intraocular pressure.
• CRISPR-Cas9 genome editing in human trabecular meshwork cells successfully reduces expression of the mutant myocilin.
• In a mouse model, genome editing leads to decreased intraocular pressure and prevents additional damage associated with glaucoma.
• An ex vivo human organ culture system shows potential for applying genome editing techniques to treat glaucoma.

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