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Primary open angle glaucoma

Definition:

Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma, and a major cause of irreversible blindness. POAG is often accompanied by ocular hypertension and characterized by progressive loss of retinal ganglion cells, atrophy of the optic nerve, and visual field loss. To date, at least 20 genetic loci for POAG have been reported. And four causative genes (CYP1B1, MYOC, OPTN, and WDR36) are identified from these loci. In addition, recently, heterozygous NTF4 mutation was associated with the phenotype in a small percentage of patients.

References:

[1]. Arif O Khan, et al. Genetics of primary glaucoma. Curr Opin Ophthalmol. 2011 Sep;22(5):347-55. [Content Brief]

[2]. Bao Jian Fan, et al. Gene mapping for primary open angle glaucoma. Clin Biochem. 2006 Mar;39(3):249-58. [Content Brief]

[3]. E M Stone, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997 Jan 31;275(5300):668-70. [Content Brief]

[4]. Emily F Freed, et al. When ribosomes go bad: diseases of ribosome biogenesis. Mol Biosyst. 2010 Mar;6(3):481-93. [Content Brief]

[5]. Francesca Pasutto, et al. Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet. 2009 Oct;85(4):447-56. [Content Brief]

[6]. Francesca Pasutto, et al. Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet. 2012 Mar 15;21(6):1336-49. [Content Brief]

[7]. Mary Anna Carbone, et al. Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma. PLoS One. 2011;6(5):e20649. [Content Brief]

[8]. Nobuo Fuse, et al. Genetic bases for glaucoma. Tohoku J Exp Med. 2010 May;221(1):1-10. [Content Brief]

[9]. Sharareh Monemi, et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet. 2005 Mar 15;14(6):725-33. [Content Brief]

[10]. Tayebeh Rezaie, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002 Feb 8;295(5557):1077-9. [Content Brief]

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