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ISSN 2992-779X (Electronic)
ISSN 2007-6452 (Print)

2014, Number 2

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Investigación en Discapacidad 2014; 3 (2)

Genetic aspects of primary open-angle glaucoma in adults

Gálvez-Rosas A

Language: Spanish
References: 68
Page: 69-76
PDF size: 341.98 Kb.


ABSTRACT

Glaucoma is the second leading cause of visual impairment and blindness worldwide. The main type of glaucoma in many populations is the primary open-angle glaucoma (POAG); based on the age of onset, a kind of early-onset POAG can be distiguished, called juvenile primary open-angle glaucoma (JPOAG), which often shows a pattern of Mendelian inheritance. However, the most prevalent subtype is called adult-onset POAG, which in most cases displays a complex pattern of inheritance. In general, more than 15 genetic loci have been reported, but only five genes have been identified in these loci as a cause of glaucoma: myocilin (MYOC), optineurin (OPTN), WD repeat domain 36 (WDR36), cytochrome P450 1B1 (CYP1B1) and neurotrophin-4 (NTF4). However, the percentage of mutations in these genes in POAG patients is low; in some of these cases, a Mendelian inheritance pattern is observed, while in a sizeable fraction of cases the phenotypes result from the contribution of a large number of different variants of genes.


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