Gálvez-Rosas A

Idioma: Español
Referencias bibliográficas: 68
Paginas: 69-76
Archivo PDF: 341.98 Kb.

RESUMEN

El glaucoma es la segunda causa de daño visual y ceguera a nivel mundial. El principal tipo de glaucoma en muchas poblaciones es el glaucoma primario de ángulo abierto (GPAA); dependiendo de la edad, se encuentra el tipo de GPAA de inicio temprano, llamado glaucoma primario de ángulo abierto juvenil (GPAAJ), que frecuentemente muestra un patrón de herencia mendeliano, pero el subtipo más prevalente es el llamado GPAA de inicio en el adulto, que presenta un patrón de herencia complejo en la mayoría de los casos. En general, más de 15 loci genéticos han sido reportados; pero únicamente cinco genes han sido identificados en estos loci como los causantes de glaucoma: la miocilina (MYOC), la optineurina (OPTN), el WD con dominios de 36 repetido (WDR36), el citocromo P450 1B1 (CYP1B1) y la neurotrofina 4 (NTF4). Sin embargo, el porcentaje de mutaciones en estos genes en pacientes con GPAA es bajo; en algunos de estos casos tienen un patrón de herencia mendeliano, y en una fracción considerable resultan de un gran número de variantes de diferentes genes que contribuyen al fenotipo. El objetivo de esta revisión es proporcionar una visión general de la genética del glaucoma primario de ángulo abierto, con especial atención a la forma adulta.

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