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Molecular Genetics of Primary Open-Angle Glaucoma 

Molecular Genetics of Primary Open-Angle Glaucoma
Molecular Genetics of Primary Open-Angle Glaucoma

Anne H. Child

, Filipe M. Pereira de Silva

, Jose Aragon-martin

, Roshanak Sharafieh

, and Mansoor Sarfarazi

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date: 20 May 2022

Primary open-angle glaucoma (POAG) is a unique group of ocular disorders that present with a variable degree of genetic heterogeneity, clinical severity, and phenotypic expression and different modes of inheritance. POAG constitutes over 75% of all glaucoma cases. A significant proportion of POAG cases are expected to be caused by direct gene coding mutations or by genetic association to common and/or unknown single nucleotide polymorphisms (SNPs) in the genomic DNA of individuals. However, gene-gene and/or gene-environment interactions may also play an equally important role in the etiology of this condition. Although the hereditary aspects of POAG have been known for over four decades, no comprehensive genetic studies of this condition were undertaken until the mid-1990s. It is now well established that POAG affects both genders and all age groups and ethnic backgrounds, and that a variety of genetic mechanisms such as dominant and recessive modes of inheritance are responsible for this condition.

Herein we will review major genetic contributions as determined by chromosomal mapping, gene identification, mutation screening, and a variety of genetic association studies that have been undertaken for this condition. This by no means will be a comprehensive account of all studies that are continually being reported on this subject. However, it is intended as a composite source of the majority of genetic studies undertaken using different groups of POAG subjects from many different age and racial groups from around the world.

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