Australia?s first ocular genetics clinic opens in Melbourne

Ms Jenny Mikakos, health minister for the Victorian government, officially opened the new multifunctional care facility last week, which serves patients with inherited eye conditions, as well as those at risk of inheriting or passing on ocular disease, or have been diagnosed with a genetic disorder affecting the eyes.The clinic was born out of an alliance between RVEEH and the Royal Melbourne Hospital (RMH), and has the potential to offer world-leading gene therapy treatments within two years.More than 50 patients have already accessed the clinic. It runs on a fortnightly basis and is staffed by ophthalmologists, clinical geneticists orthoptists and genetic counsellors.RVEEH lead ophthalmologist Dr Jonathan Ruddle said the multidisciplinary clinic would power patients and their relatives to learn about their disease, achieve better diagnosis and gauge progression rates.{{quote-A:R-W:400-I:2-Q:“We also hope that patients we diagnose, counsel and inform through the clinic will one day receive gene therapy. That day may not be too far away, even in the next couple of years” -who:Dr Jonathan Ruddle, RVEEH}}“We also hope that patients we diagnose, counsel and inform through the clinic will one day receive gene therapy. That day may not be too far away, even in the next couple of years,” he said.“An application for approval of gene therapy for very rare RPE65 gene, known as Luxturna, is currently being considered at the federal level. Luxturna will treat a small subset of early onset retinitis pigmentosa, affecting people before the age of 20. We are naturally keen to identify these patients, of which there may be up to a dozen in Victoria.”Ruddle said genetic treatments for other more common retinal conditions such as x-linked retinitis pigmentosa and choroideraia were also progressing through the clinical study pipeline.“And so we are naturally keen to hear from people who have or may have these conditions,” he added.The clinic is currently seeing patients with inherited retinal diseases, inherited optic atrophy, and anterior segment diseases such as glaucoma and cataract. “Some family mbers are worried about their risk of carrying the condition or passing it on to future offspring. Others have just been newly diagnosed and seek a better understanding to take back to their referring community practitioner with an ongoing monitoring plan,” Ruddle said.Renewed hops Linda Nancarrow is one of the clinic’s first patients, and has the genetic eye disease autosomal dominant cone dystrophy. The condition runs in her family, with her vision beginning to deteriorate in her teenage years.“In my mind, the stand-out feature of the clinic is having a genetic counsellor working along-side a specialist ophthalmologist. This ensures that families not only obtain a detailed and accurate understanding of the implications of genetic test results, but also receive the essential otional support, and guidance necessary at such a difficult time,” she said.“It is my wish that one day I will be able to read an article explaining that researchers have the ability to eliminate the trait that causes genetic eye disease.”Mikakos said the clinic was part of an overall $8.3 million investment in genomic sequencing initiatives for Victoria. The state government has also committed $92.3 million this financial year to the RVEEH, a 14.5% increase (or $11.72 million) over the previous 12 months. An additional $100,000 of recurrent funding was specifically earmarked for the ocular genetics clinic.“This new service is a game-changer for people with hereditary eye conditions. Thanks to cutting-edge genetic testing, patients now get a clearer and quicker diagnosis of their condition,” she said.RMH director of genomic medicine Professor Ingrid Winship said the partnership was a critical factor in the success of the clinic. “The key for the two organisations is to address specific medical needs of patients who have genetic eye disease and to protect their vision and help plan for their future.” More reading:Australia’s busiest eye hospital revealedGenetic variants identify glaucoma risk with 75% accuracy