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Glaucoma is a neurodegenerative disease characterized by the progressive loss of retinal ganglion cells and optic nerve axons. According to its anatomical features, glaucoma is mainly subdivided into primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG). Exfoliation syndrome (XFS) and glaucoma (XFG) are characterized by the accumulation of extracellular materials in ocular tissues, particularly the lens surface and pupillary border. In addition to the two major forms of glaucoma, XFG is the most common cause of secondary open-angle glaucoma. Large-scale genome-wide association studies were recently performed for each subtype of glaucoma and several genetic loci were found to be independently associated with POAG, PACG, and XFS. Genetic studies may not only provide a better understanding of the pathophysiological mechanisms underlying the diseases, but also facilitate the development of new drugs or treatments. The pathogenesis and etiology of glaucoma are not fully understood. This review provides an update of the latest research findings, including genome-wide association studies for POAG, PACG, and XFG.

作者:Yoichi, Sakurada;Fumihiko, Mabuchi

来源:Current neuropharmacology 2017 年

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作者:
Yoichi, Sakurada;Fumihiko, Mabuchi
来源:
Current neuropharmacology 2017 年
标签:
Words: primary open-angle glaucoma exfoliation glaucoma exfoliation syndrome genetic variants genome wide association study primary angle-closure glaucoma
Glaucoma is a neurodegenerative disease characterized by the progressive loss of retinal ganglion cells and optic nerve axons. According to its anatomical features, glaucoma is mainly subdivided into primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG). Exfoliation syndrome (XFS) and glaucoma (XFG) are characterized by the accumulation of extracellular materials in ocular tissues, particularly the lens surface and pupillary border. In addition to the two major forms of glaucoma, XFG is the most common cause of secondary open-angle glaucoma. Large-scale genome-wide association studies were recently performed for each subtype of glaucoma and several genetic loci were found to be independently associated with POAG, PACG, and XFS. Genetic studies may not only provide a better understanding of the pathophysiological mechanisms underlying the diseases, but also facilitate the development of new drugs or treatments. The pathogenesis and etiology of glaucoma are not fully understood. This review provides an update of the latest research findings, including genome-wide association studies for POAG, PACG, and XFG.