Journal
EXPERIMENTAL EYE RESEARCH
Volume 160, Issue -, Pages 62-84Publisher
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.exer.2017.05.002
Keywords
Glaucoma; POAG; GWAS; Linkage; Association; Differential expression; Genetics; Endophenotype
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Funding
- Glaucoma Research Foundation (San Francisco, CA, USA)
- Glaucoma Foundation (New York, NY, USA)
- BrightFocus Foundation (Clarksburg, MD, USA)
- Research to Prevent Blindness, Inc. (New York, NY, USA)
- National Eye Institute (NEI, Bethesda, MD, USA) [R01EY023242, R03EY014939, R01EY015543, R01EY023646]
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Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), the most common type, is a complex inherited disorder that is characterized by progressive retinal ganglion cell death, optic nerve head excavation, and visual field loss. The discovery of a large, and growing, number of genetic and chromosomal loci has been shown to contribute to POAG risk, which carry implications for disease pathogenesis. Differential gene expression analyses in glaucoma-affected tissues as well as animal models of POAG are enhancing our mechanistic understanding in this common, blinding disorder. In this review we summarize recent developments in POAG genetics and molecular genetics research. (C) 2017 Elsevier Ltd. All rights reserved.
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