12/11/2025
✨ In celebration of Genetic Counsellor Awareness Day, we’re spotlighting Lisa Kearns, Research Genetic Counsellor and Orthoptist, who works with people affected by inherited eye diseases. ✨
Lisa also focuses on Leber Hereditary Optic Neuropathy (LHON), a rare mitochondrial disorder that leads to sudden central vision loss. Her work raises awareness and helps people navigate diagnosis with confidence.
🔺 Why is raising LHON awareness so important?
“Many people may be unfamiliar with LHON, which can delay diagnosis. Sudden vision loss can have a major, life-changing impact. Raising awareness improves understanding and reduces misconceptions, ensuring earlier recognition and timely connection to low-vision services, support networks and research. It also can help maternally related family members who may worry about their vision loss risk to manage emotions such as fear, anxiety or guilt.
“Genetic counselling supports individuals and families to work through these feelings, understand their personal risk and discuss lifestyle, environmental and other factors that may trigger vision loss. It also provides an opportunity to explore family planning options, including emerging mitochondrial donation techniques that can help women reduce the risk of passing on the condition. This enables families to make informed decisions about their future.”
🔺 How do you support and empower people impacted by inherited eye conditions?
“Living with an inherited eye condition can bring many emotions and uncertainties. Support focuses on helping people navigate these challenges and find ways to cope and adapt. It helps individuals and families understand their diagnosis, talk through options for genetic testing and consider what it may mean for other family members, including family planning choices.
“We also connect people with low-vision services, practical aids and technology, mental health resources, peer or community groups and guidance on opportunities such as clinical trials or treatments. All to empower people to make informed choices and live life to the fullest.”
🔺 What advice would you give to someone who has just received diagnosis of an inherited eye disease or is concerned about their genetic risk?
“It can feel overwhelming. A referral for genetic counselling can help people understand their situation and genetic risk, and connect them with support. You're not alone in navigating this journey.”
🔺 What excites you about the future?
“Years ago, patients with an inherited eye disease were often told nothing could be done. Today, advances in genetic testing and research are helping us understand these conditions better – improving diagnosis and care, and creating more opportunities for clinical trials.
“It’s also wonderful to see the growing connection between researchers, clinicians and patients – driving change and ensuring lived experiences help shape future research, treatment development and supporting families.”