05.07.2016

Link Found Between Specific Gene and Childhood Glaucoma

Link Found Between Specific Gene and Childhood Glaucoma

The results of a study performed by researchers at Northwestern Medicine and University of
Wisconsin-Madison (UW) indicate that a single gene has been identified that is responsible for childhood glaucoma.

This data, which has been published in The Journal of Clinical Investigation, supports a previous study from just two years ago that found a similar link in mice. With further supporting evidence, the goal is to work towards a more effective treatment for the disease, and possibly even a cure.

Dr. Susan Quaggin, lead investigator for the study, said “"This work shows us how a genetic mutation causes a severe form of glaucoma called primary congenital glaucoma, which afflicts a significant portion of children enrolled in institutions for the blind worldwide.”

The gene in question, called TEK, is vital in the development of certain vessels within the eye. One of these vessels, called Schlemm’s canal, is responsible for draining fluid from within the eye.

Patients suffering from glaucoma have a fluid build up, which increases pressure within the eye, and puts pressure on the optic nerve. This damages the nerve over time, and leads to visual impairment and eventually blindness.

There are other genes thought to influence the development of glaucoma, also, but further research is needed to verify these hypotheses.

In the meantime, scientists are working on developing an eye drop that works to repair the damaged or malfunctioning vessel, allowing it to operate normally, and remedy the effects of glaucoma.


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