Aspectos genéticos del glaucoma primario de ángulo abierto en el adulto
Palabras clave:
Glaucoma primario de ángulo abierto, genes, herencia mendeliana, cegueraResumen
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); de-
pendiendo 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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