Leading LHON partnerships between families and scientists
Stroies
Leading LHON partnerships between families and scientists
Leber Hereditary Optic Neuropathy is a disease that affects entire families, and decades of CERA studies has built relationships that support people and research.
When vision loss strikes suddenly – as it does with Leber Hereditary Optic Neuropathy (LHON) – it leads to life-changing impacts on daily life, emotional well-being, and independence.
LHON, a genetic eye condition, requires immediate and lifelong practical and psychosocial supports for the affected individual.
It also needs a collaborative approach where researchers and families work together to navigate uncertainty, advance understanding, and provide hope.
CERA’s Head of Mitochondrial Biology and Disease Dr Isabel Lopez Sanchez says the abrupt change of life caused by LHON vision loss, which is carried through the mother’s line, becomes a journey for the entire family.
“One of the most striking aspects of LHON is its unpredictability,” she says.
“The uncertainty of having the genetic risk creates great anxiety for families, but it also highlights why the researcher-family relationship is so crucial as we need initial detailed information and then follow-up data.”
LHON is a rare disease that affects the optic nerve, typically in early adulthood.
It is caused by changes in the DNA of the mitochondria – the powerpacks that provide energy to our cells.
It causes profound loss of central vision (sharpness and colour) and makes reading, driving and recognising faces difficult.
There is currently no cure for LHON.
Affected individuals and family members can discover that even though relatives may have the same genetic risk, not all will be impacted in the same way.
The Australian LHON Research Team of Professor David Mackey AO, who has been working in the field for more than 35 years, Dr Isabel Lopez Sanchez, Dr Sandra Staffieri AO, and Lisa Kearns have a long and strong bond with more than 100 Australian families affected by LHON.
The team has such a significant relationship with the families (altogether, at least 355 people) that they were shortlisted for this year’s Patients Australia Outstanding Patient Research Award.
The nomination focused on the team’s efforts to improve diagnosis, counselling and treatment of LHON.
Crucial relationship
The relationship between LHON researchers and affected families is a powerful model of partnership-driven medicine, Lisa Kearns, research genetic counsellor and orthoptist at CERA says.
The families often advocate for research funding and raise awareness of the rare condition.
“There is a great deal of research into LHON in Australia, making us one of the recognised global leaders in the field,” she says.
Dr Lopez says that people will often search online as soon as they hear ‘LHON’.
“We aim to provide context for emerging research and help families interpret preliminary results,” she said.
“Accurate risk information is essential, particularly for family planning and ensuring families can make informed choices.”
Changing prospects
Australia is well placed with several eminent ophthalmologists who understand the disease well, including Professor Mackey and Professor Alex Hewitt from CERA/University of Tasmania.
However, the condition is not easily recognised when it presents in atypical scenarios and can be mistaken for other diseases.
This can delay supportive services and lead to unnecessary investigations or procedures.
The team recently published a review paper to raise awareness of LHON among health professionals and challenge misconceptions surrounding the condition.
The work of the researchers has led to the first accurate estimates of vision loss risk – significantly lower than previously thought.
Dr Lopez Sanchez said that for over 30 years, it was believed that one in two men and one in 10 women with a LHON mutation would lose vision.
“Our seminal work showed the actual risk is much lower – one in six for men and one in 20 for women,” she said.
“The discovery has changed our understanding of LHON and how families are counselled worldwide, reducing fear and providing clarity.”
Their research also found that LHON genetic risk mutations are far more common than previously thought, affecting about one in 800 Australians, a rate comparable to BRCA1/2 mutations in breast and ovarian cancer.
While there are currently no active clinical trials for LHON in Australia, several important studies are underway:
- A CERA-led study on the impact in quality of life of LHON on people and their families
- A research program to identify new therapeutic targets and understand why some people with LHON mutations lose vision while others preserve good vision
- Studies to understand the epidemiology of LHON in Australia and identify other genetic factors
- A study examining potential hearing loss involvement in people with LHON mutations, in collaboration with the University of Melbourne.
New genetic technology set to make a difference for families with LHON and other mitochondrial conditions is mitochondrial donation.
This allows women at risk of passing on mitochondrial conditions to have genetically-related children with a greatly reduced chance of developing the condition.
The LHON team is working with Australia’s mitochondrial donation pilot program (mitoHOPE), set to begin participant recruitment in late 2026.
Read the research
Kearns, L. S., Staffieri, S. E., & Mackey, D. A. (2025). Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices. Clinical & experimental ophthalmology, 53(3), 292–301. https://doi.org/10.1111/ceo.14493
Mackey, D. A., Staffieri, S. E., Lopez Sanchez, M. I. G., & Kearns, L. S. (2025). Family and genetic counseling in Leber hereditary optic neuropathy. Ophthalmic genetics, 46(2), 101–109. https://doi.org/10.1080/13816810.2025.2451175
