NDLI: Aspectos genéticos del glaucoma primario de ángulo abierto en el adulto

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Aspectos genéticos del glaucoma primario de ángulo abierto en el adulto

Content Provider	Semantic Scholar
Author	Gálvez-Rosas, Arturo
Copyright Year	2014
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. Articulo de revision Vol. 3, Num. 2 Abril-Junio 2014 pp 69-76 * Servicio de Genetica, Instituto Nacional de Rehabilitacion. Direccion para correspondencia: D. en C. Arturo Galvez Rosas Tercer piso de la Torre de Investigacion del Instituto Nacional de Rehabi l i tac ion. Ca lzada Mexico-Xochimilco Num. 289, Col. Arenal de Guadalupe, 14389, Del. Tlalpan, Distrito Federal, Mexico. E-mail: art690615@yahoo.com.mx Recibido: 21 de enero de 2014. Aceptado: 12 de junio de 2014. Este articulo puede ser consultado en version completa en: http://www.medigraphic.com/rid Palabras clave: Glaucoma primario de angulo abierto, genes, herencia mendeliana, ceguera.
Starting Page	69
Ending Page	76
Page Count	8
File Format	PDF HTM / HTML
Volume Number	3
Alternate Webpage(s)	http://www.medigraphic.com/pdfs/invdis/ir-2014/ir142d.pdf
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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