New study – Leber Hereditary Optic Neuropathy

Professor David Mackey AO

Families living with genetic mutations that cause a rare genetic eye disease, Leber Hereditary Optic Neuropathy (LHON), will benefit from new research published in the American Journal of Human Genetics. 

The research was led by Professor David Mackey AO from the Lions Eye Institute, and Dr Isabel Lopez-Sanchez from the Centre for Eye Research Australia (CERA).

LHON is a genetic eye disease, passed from a mother to her children, that causes loss of central vision, usually in young adulthood. Vision loss is sudden and permanent. New statistics show the overall risk of losing vision if you have the LHON gene is one in six for males and one in 20 for females.

“People affected by LHON never go completely blind, and a small percentage may recover some vision, but the vast majority will not be able to drive, read or recognise faces,’’ says Professor Mackey.

“For 30 years I have worked with eye specialists around the country and the research team at CERA to be able to assemble some of the most accurate data about LHON risk anywhere in the world.

“Although we are still working to find treatments for LHON, knowing exactly the risk for vision loss allows us to design better clinical trials.

“If the federal government passes legislation to allow mitochondrial donation, we will be able to give family members accurate risk data so they can make an informed decision about opting for this new treatment.”

There is currently no treatment or cure for LHON, however emerging technologies such as gene therapy are making treatments and cures possible in the future. CERA Principal Investigator Dr Isabel Lopez-Sanchez says the study will provide researchers with a comprehensive database of people they can ask to take part in future clinical trials and studies aiming to prevent or treat vision loss.

“It will also help us design accurate trials and studies, which is very important, as that will help us develop efficient treatments,” she says.

Read the full media statement.

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