Mouse genetics: A tool to help unlock the mechanisms of glaucoma

Gene characterization holds great promise far understanding molecular mecha nisms of disease. Although glaucoma gene identification is very valuable an d allows assessment of an individual's genetic risk, it is not by itself su fficient to answer detailed questions about pathogenesis. Despite the recen t identification of a number of glaucoma genes, there are still many questi ons regarding the ways in which mutations in these genes cause disease. The mouse system, including the ability to alter specific genes, provides a po werful experimental system for hypothesis testing and molecular dissection of pathogenesis subsequent to gene identification. The ability to control b oth genetic and environmental factors will allow the use of mice to identif y modifier genes that alter complex glaucoma phenotypes and that are especi ally difficult to identify in human families. By providing a bridge between gene identification and tests of gene function, mouse studies will he an i mportant complement to those in humans and other species. This article summ arizes the recent use of mice and the future potential of applying approach es of mouse genetics to intraocular pressure and glaucoma research.