Abstract
Glaucoma is an optic neuropathy and often associated with elevated intraocular pressure (IOP). It is the second leading cause of irreversible blindness worldwide and is characterized by the optic nerve degeneration and loss of retinal ganglion cells (RGCs). This may lead to loss of vision. The primary cause of glaucoma is unknown but several risk factors including elevated IOP and age have been suggested. In most population, primary open-angle glaucoma (POAG) is the most common type of glaucoma and is often associated with elevated IOP. Genetic analyses have identified at least 14 chromosomal loci but only three genes which when mutated can cause POAG have been well documented. These genes account for less than 5% of all POAG cases suggesting that more than 90% of the genetic contribution of POAG cases is unknown. RGC consists of cell body, axon and dendritic arbor and each of these three parts can independently degenerate. Several molecular signals such as oxidative stress, mitochondrial dysfunction, disruption of neurotrophic factor (NTF), dysfunction of immune system, glial activation and the release of tumor necrosis factor (TNF) have been found to be involved in the optic nerve degeneration. Therefore, therapies aimed at axonal and cell body protection may have a greater protective role in early or progressive glaucoma. In the future, an understanding of gene-gene and gene-environmental factor interaction as well as epigenetic regulation of gene expression by environmental factors may provide an opportunity to develop neuroprotective therapies and DNA based diagnostic tests.
Highlights
Glaucoma is clinically and genetically complex neurodegenerative disorder of the eye
The disorder is clinically characterized by the progressive degeneration of the retinal ganglion cells (RGCs) and is frequently associated with elevated intraocular pressure (IOP) that leads to optic nerve damage and irreversible loss of vision
Previous studies suggest that glaucomatous neuropathy is associated with several molecular signals such as oxidative stress, disruption of neurotrophic factor (NTF), dysregulation of immune system, glial activation, mitochondrial dysfunction and the release of tumor necrosis factor (TNF) [6]
Summary
Glaucoma is clinically and genetically complex neurodegenerative disorder of the eye. It is the second leading cause of blindness affecting approximately 70 million people worldwide [1]. The disorder is clinically characterized by the progressive degeneration of the retinal ganglion cells (RGCs) and is frequently associated with elevated intraocular pressure (IOP) that leads to optic nerve damage and irreversible loss of vision. Elevation in IOP is neither necessary nor sufficient for the onset or progression of the disorder. This clinical heterogeneity may indicate genetic heterogeneity of the disease. It is likely that genetic, epigenetic and environmental factors may influence the development of POAG [10]
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