Genetic Aspects of Glaucoma: An Updated Review

Abstract

Glaucoma is a group of diverse diseases characterized by cupping of the optic nerve head due to the loss of retinal ganglion cells. It is the most common cause of irreversible blindness throughout the word; therefore, its timely diagnosis and early detection through an ophthalmological examination are very important. We, herein, present the information on the epidemiology, pathophysiology, clinical diagnosis, and treatment of glaucoma. We also emphasize the investigations of the last decades that have allowed identifying numerous genes and susceptible genetic factors. We have also described in detail the genes whose mutations cause or contribute to the development of the disease.

Keywords: NGS; blindness; elevated intraocular pressure; elevated intraocular pressure glaucoma; glaucoma; glaucoma genes; glaucoma genetics; microarrays; monogenetic glaucoma.