Dr Srujana Sahebjada is leading a new study to find the genetic causes of a corneal disease which mostly affects children and young people.
“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,” says Dr Sahebjada. “I am endeavouring to change that.”
Keratoconus thins the cornea – the clear window at the front of the eye which plays a critical role in our vision – until it develops a cone-shaped bulge that distorts vision and may eventually require a corneal transplant.
“Keratoconus can have such a big impact on a young person’s life. Some had to give up study or put career dreams on hold because of multiple corneal transplants.
“I met children who were affected and many patients who talked of the great discomfort and pain of wearing the rigid contact lenses needed to treat the condition.
“Yet there was frustration that their condition was not understood and their experiences were not acknowledged because they looked so well despite their vision problems.
“I felt they deserved so much more recognition and wanted to do research which could help alleviate their suffering.’’
Dr Sahebjada is now leading a new study, supported by the Perpetual 2019 IMPACT Philanthropy Program, to investigate genetic causes of the disease.
She hopes to identify high-risk patients and stop the disease’s progression, reducing the need for transplants.
The impact of philanthropy
Dr Sahebjada says philanthropic support is critical for researchers studying diseases like keratoconus which are not as well known in the community.
The funding from the Perpetual IMPACT Philanthropy Program will pay for her salary to collect the tissue, analyse the data and perform the experiments, including expensive Ribonucleic acid (RNA) sequencing.
Dr Sahebjada has spent 10 years working to reduce the burden of keratoconus by identifying clinical and environmental risk factors.
Gaining new insights
She has also established the Keratoconus International Consortium (KIC) to co-ordinate global efforts.
The program is supported by the Victorian Lions Foundation Inc and led by Dr Sahebjada, CERA Principal Investigator Corneal Research Associate Professor Mark Daniell and Professor Paul Baird from the University of Melbourne.
Dr Sahebjada’s research is also supported by several individual donors.
Globally, the prevalence of keratoconus grew from 1:2000 in 1986 to 1:375 in 2016.
Early on, the thinning of the cornea caused by keratoconus can be managed with glasses, contact lenses or collagen crosslinking which uses vitamin B2 and ultraviolet light to slow disease progression.
Many patients need a corneal transplant, which has a 20 per cent rejection rate. Most face huge treatment costs and changes in the corneal curve often require frequent prescription updates.
Keratoconus is the second largest cause of corneal transplants (22 per cent) behind Fuch’s corneal dystrophy.
Growing demand for corneas has caused a worldwide shortage of donor tissue. About 12.7 million people are on corneal transplant waiting lists.