Emerging strategies targeting genes and cells in glaucoma.

Abstract

Glaucoma comprises a heterogeneous set of eye conditions that cause progressive vision loss. Glaucoma has a complex etiology, with different genetic and non-genetic risk factors that differ across populations. Although difficult to diagnose in early stages, compromised cellular signaling, dysregulation of genes, and homeostatic imbalance are common precursors to injury and subsequent death of retinal ganglion cells (RGCs). Lowering intraocular pressure (IOP) remains the primary approach for managing glaucoma but IOP alone does not explain all glaucoma risks. Orthogonal approaches such as large-scale genetic screening, combined with studies of animal models have been instrumental in identifying genes and molecular pathways involved in glaucoma pathogenesis. Cell type dependent vulnerability among RGCs can reveal genetic basis for specific visual deficits. A growing body of knowledge and availability of modern tools to perform targeted assessments of cellular health in different animal models facilitate development of effective and timely interventions for vision rescue. This review highlights recent findings on genes, molecules, and cell types in the context of glaucoma pathophysiology and treatment.