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New research investigates the genetic causes of keratoconus

A new study aims to reveal crucial insights into the causes of keratoconus, a condition of the cornea that predominantly affects young adults and children.

The cornea, the front window of the eye, plays an important role in focusing our vision. In healthy eyes, the cornea is clear and curved in a dome shape, allowing light to enter the eye.

For people with keratoconus, the cornea gets progressively thinner, developing a cone-shaped bulge that distorts vision. As the disease advances, vision continues to deteriorate, and a corneal transplant may be required to restore vision.

“Keratoconus predominately affects teens to those in their early adulthood, when these young people are supposed to be living some of their best years,” says CERA Research Fellow Dr Srujana Sahebjada.

“Although the prevalence of keratoconus is increasing, there is still a lot we don’t know about the disease, its causes and the ways to prevent the condition. I am endeavouring to change that.”

Investigating the genetic causes

To uncover insights into the genetic causes of keratoconus, Dr Sahebjada is leading a new study that will examine the corneas of people with the condition.

Dr Sahebjada will collect the diseased tissue, which is usually discarded during a corneal transplant, and study the genetic material in each of the different corneal layers using advanced genetic techniques.

Dr Srujana Sahebjada

CERA research fellow Dr Srujana Sahebjada

“This gives us a comprehensive look at the corneal tissue to help us try to identify which layers are being affected and where the disease is originating,” says Dr Sahebjada.

In the long term, this work could provide insights that help identify high-risk patients and stop the progression of the disease to more advanced stages, hopefully reducing the need for corneal transplants.

“We are doing such important work at CERA and have achieved some significant advancements, but I’m determined to continue to strive towards improving the lives of those with keratoconus.”

This research is supported by a significant grant from the Perpetual 2019 IMPACT Philanthropy Application Program.

Leading a global effort

CERA researchers have formed the Keratoconus International Consortium (KIC) – bringing together 40 keratoconus research groups around the world to create a shared database.

This work at CERA is supported by the Lions Eye Donation Service and led by Dr Srujana Sahebjada, Professor Paul Baird and Associate Professor Mark Daniell.

“We hope that by collecting unified research data and sharing it with one another, we can develop a globally accepted classification system to monitor the disease progression and promote a more consistent approach to diagnosis and treatment,” Dr Sahebjada says.


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