Feature, Orthoptics Australia

Bringing Usher syndrome into focus

Usherkids Australia’s new webinar series focuses on the latest research and clinical guidelines. Emily Shepard and Hollie Feller discuss collaborating with Orthoptics Australia on the project.

Usher syndrome is an inherited condition characterised by congenital hearing loss or deafness, progressive vision loss due to retinitis pigmentosa (RP), and in some cases vestibular dysfunction.

It is the most common cause of deafblindness, affecting an estimated 400,000 people worldwide. There are three types of Usher syndrome with more than 13 genetic changes or mutations identified with the condition.

Emily Shepard

UsherKids Australia is a not-for-profit charitable organisation that was established in 2016 as a parent-led support group to enhance the lives of children diagnosed with Usher syndrome and their families in Australia. The organisation’s mission is to ensure children diagnosed with Usher syndrome and their families have access to an informed, committed and caring community of clinicians, service providers, educators, researchers and peer support networks to allow them to thrive in their everyday endeavours.

UsherKids Australia has released a series of webinars focusing on the latest updates on global clinical research efforts into Usher syndrome, clinical guidelines, how to support your student with Usher syndrome in the classroom and more.

The educational webinars are available on the UsherKids Australia website to watch on demand. They include a range of presenters who are Australian and international leaders in support for children with Usher syndrome, making the content a must for families and healthcare professionals caring for children withUsher syndrome in Australia.

Hollie Feller

UsherKids Australia worked closely with Orthoptics Australia to ensure the webinar content was relevant for the continuing professional development of orthoptists, as they play a vital role in the care and management of children with the condition.

Of particular note is the presentation by Dr Sandra Staffieri, a senior clinical orthoptist at the Royal Children’s Hospital focusing on the assessment of retinitis pigmentosa, eye appointments and eyecare and the importance of regular monitoring of vision.

Dr Staffieri discusses the role orthoptists play as part of a team assessing visual function, retinal imaging and specialised ocular electrophysiology assessments for patients with Usher syndrome including how clinicians can work with families to provide the best outcomes from eye appointments.

Orthoptists’ dynamic and unique skillset enables them to provide patients with information on glasses, visual aids, adaptive technology support services, and organisations that might be suitable to maximise patient’s vision or provide extra help to cope with their condition.

It is important individuals undergo regular ophthalmic review to track progression of the disease and facilitate appropriate strategies and supports to be introduced to manage the reducing visual field. Genetic counselling is also recommended for families. UsherKidsAustralia board member Ms Lisa Kearns, as an orthoptist and associate genetic counsellor, is at the forefront of genetic counselling for inherited retinal diseases and is uniquely placed as having a clear understanding of the assessments required, the impact of inherited disease such as usher syndrome.

There is a lot of promising research into retinal gene therapy and stem cell technology that bring hope to families with Usher syndrome. Orthoptists also play a critical role in education and actively contributing to upcoming research and clinical trials. Clinicians may like to refer families to UsherKidsAustralia and can contact the team via email info@usherkidsaustralia.com or via our Facebook page. Our website www.usherkidsaustralia.com provides resources and links about Usher syndrome, available services for families and more information on the USHER IN FOCUS Webinar Series.

ABOUT THE AUTHORS: Emily Shepard is a co-founder and Director of UsherKids Australia committed to making the lives of children with Usher syndrome and their families better by equipping parents with the support and guidance needed when they’re most vulnerable. Hollie Feller is a co-founder and director of UsherKids Australia. She is a fierce advocate for early diagnosis of Usher syndrome via genetic testing, the education of clinical professionals as well as support for families around the country to share research and information about the current generation of USH kids.