Molecular genetics in glaucoma

Glaucoma is a family of diseases whose pathology is defined by the progressive loss of retinal ganglion cells. Clinically, glaucoma presents as a distinctive optic neuropathy with associated visual field loss. Primary open-angle glaucoma (POAG), chronic angle-closure glaucoma (ACG), and exfoliation glaucoma (XFG) are the most prevalent forms of glaucoma globally and are the most common causes of glaucoma-related blindness worldwide. A host of genetic and environmental factors contribute to glaucoma phenotypes. This review examines the current status of genetic investigations of POAG, ACG, XFG, including the less common forms of glaucoma primary congenital glaucoma (PCG), the developmental glaucomas, and pigment dispersion glaucoma.

► A very comprehensive summary of the recent development in glaucoma genetics.
► Genetics of POAG, ACG, XFG, PCG, developmental and pigment dispersion glaucoma.
► Most recent development of GWAS studies in POAG and XFG.
► Discussion of novel technology such as whole exome sequencing in ocular diseases.
► New genes identified in primary congenital glaucoma and angle-closure glaucoma.