The chance detection of one large family’s predisposition to small eyes has given Flinders University researcher Mona Awadalla a new angle on the disease glaucoma.
Mona and her colleagues identified a new gene mutation that leads to reduced eyeball size, which led to glaucoma in 16 members of one family.
Known as TMEM98, the gene codes for a protein found in several parts of the eye.
“We think this protein plays a role in eye growth,” explains Mona. “We’re now screening other families with inherited small eyes – a condition known as nanophthalmos – to see if the mutation is more common.”
Glaucoma is a condition in which the optic nerve is slowly destroyed, usually due to increased pressure inside the eyeball. It is the leading cause of irreversible blindness worldwide, and costs Australia more than $300 million every year.
However the triggering factor for glaucoma is usually unknown. It strikes subtly and unpredictably, and is usually not detected until irreparable visual loss has taken place.
This discovery of a new protein linked to eye growth may prove vital in understanding how the eye develops normally, and what goes wrong in the case of glaucoma and visual loss.
“In the end, we’d like to help people at risk by offering an early glaucoma intervention,” says Mona.
Contact: Mona Awadalla, Flinders University, 0431 756 237, firstname.lastname@example.org