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Update on the genetics of primary open-angle glaucoma.


ABSTRACT: Affecting nearly 80 million individuals, glaucoma is the number one cause of irreversible blindness in the world. This ocular disease describes a set of optic neuropathies of which primary open angle glaucoma (POAG) is the most common. POAG is associated with progressive visual field deterioration resulting from damage to the optic nerve and loss of retinal ganglion cells. Risk factors for POAG include elevated intraocular pressure, aging, African and Hispanic ancestry, and a positive family history of POAG. Multiple genes have been found to contribute to POAG. Much of POAG genetics and pathology has yet to be explained. Recent genome-wide association studies have identified a large number of novel loci associated with POAG and its endophenotypes. Genomic and proteomic profiling of biofluids has contributed to our knowledge of differential gene expression in POAG. Functional studies both in cell culture and animal models have confirmed the effects of variants and differential gene expression on ocular physiology while in silico analyses have increased our understanding of disease risk and progression so that we might better diagnose and treat this complex genetic illness.

SUBMITTER: Youngblood H 

PROVIDER: S-EPMC6901111 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

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Update on the genetics of primary open-angle glaucoma.

Youngblood Hannah H   Hauser Michael A MA   Liu Yutao Y  

Experimental eye research 20190913


Affecting nearly 80 million individuals, glaucoma is the number one cause of irreversible blindness in the world. This ocular disease describes a set of optic neuropathies of which primary open angle glaucoma (POAG) is the most common. POAG is associated with progressive visual field deterioration resulting from damage to the optic nerve and loss of retinal ganglion cells. Risk factors for POAG include elevated intraocular pressure, aging, African and Hispanic ancestry, and a positive family his  ...[more]

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