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Abstract
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in people over 50 years old in developed countries. Currently, we still lack a comprehensive understanding of the genetic factors contributing to AMD, which is critical to identify effective therapeutic targets to improve treatment outcomes for AMD patients. Here we discuss the latest technologies that can facilitate the identification and functional study of putative genes in AMD pathology. We review improved genomic methods to identify novel AMD genes, advances in single cell transcriptomics to profile gene expression in specific retinal cell types, and summarize recent development of in vitro models for studying AMD using induced pluripotent stem cells, organoids and biomaterials, as well as new molecular technologies using CRISPR/Cas that could facilitate functional studies of AMD-associated genes.
Highlights
Age-related macular degeneration (AMD) is the leading cause of central vision loss among people over 50 years old in developed countries (Klein et al, 1992; Mitchell et al, 1995)
Menon et al (2019) found that within the retina, the majority of genes surrounding the 34 risk loci were expressed in Müller glia and astrocytes, including leading AMD genes such as CFI, VEGFA, TIMP3, and COL4A3. They identified the cell types within the retina that are most predictive of AMD risk are cone photoreceptors, glial, and vascular cells. These results suggest that in addition to photoreceptors and retinal pigment epithelium (RPE), which are the major cell types affected by AMD, glia and vascular cells are potentially important in AMD pathogenesis
Somatic cells from patients can be reprogrammed into induced pluripotent stem cells (iPSCs) (McCaughey et al, 2016), which can be subsequently differentiated into the clinically relevant cell types for AMD, such as RPE and photoreceptors. iPSC provided a feasible strategy to derive patient-specific models to study ocular diseases, as we described previously (Khan et al, 2016; Hung et al, 2017; Wong et al, 2017)
Summary
Age-related macular degeneration (AMD) is the leading cause of central vision loss among people over 50 years old in developed countries (Klein et al, 1992; Mitchell et al, 1995). Neovascular AMD often causes sudden vision loss due to the formation of abnormal, new blood vessels, usually developing in the choroid and invading through Bruch’s membrane into the neuroretina. When this occurs there is usually fluid leakage, hemorrhage, and if left untreated, irreversible scarring will occur which affects the RPE and photoreceptors at the macula, leading to severe loss of central vision (Velez-Montoya et al, 2014). Loss of choriocapillaris endothelial cells is one of the earliest detectable events in this disease, which can drive progression to more advanced stages due to subsequent loss of metabolic support to the outer retina
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