Genetic marker could predict eye disease
Thursday, 7th June, 2018
QUEENSLAND scientists have discovered new genetic markers which could predict the onset of debilitating eye disease.
The team at QIMR Berghofer Medical Research Institute has found 19 new markers that can indicate if a person is at higher risk of eye disease.
The genome-wide study of 25,000 people almost doubles the number of known genetic variants that affect how thick the cornea is and brings the total number of known variants to 45.
QIMR Berghofer Medical Research Institute's Associate Professor Stuart MacGregor said corneal thickness was associated with a debilitating condition called keratoconus, that that affects the front surface of the eye.
"This extra information about the genetic basis of the variation in corneal thickness, which is a major risk factor for eye diseases like keratoconus, will help us to better screen for this debilitating condition in the future," he said.
Keratoconus results in a thinning of the cornea, which causes a conical bulge that distorts the vision.
In severe cases, sight may only be restored through corneal transplant surgery.
Associate Professor MacGregor said the discovery of new genetic markers could help predict a person's future risk of corneal thinning.
"Corneal thickness is remarkable because it is one of the most heritable human traits," he said.
"If we mapped more of the genes for corneal thickness, you could predict at birth what a person's corneal thickness would be with very high accuracy because there are almost no environmental factors that determine it.
"The discovery of additional genetic markers will help us to reliably predict which people are at a higher risk of keratoconus in the future, which is very exciting."
Associate Professor MacGregor said the research did not find an association between low corneal thickness and glaucoma.
The QIMR Berghofer-led research was a collaboration with geneticists from around the world.