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Science and Research
Leber hereditary optic neuropathy (LHON) research
From mitochondrial research to gene editing, our scientists take a number of approaches to investigate this rare inherited condition and strive to develop future treatments.
Overview
Leber hereditary optic neuropathy (LHON) is a rare inherited eye condition that causes sudden and irreversible blindness.
Our researchers are investigating the cellular and molecular changes that occur in LHON, and the protective pathways that can prevent vision loss.
Collaborating across a number of research areas, we are working to provide an update on the number of people affected by LHON in Australia and investigating other genetic and environmental factors that could protect or trigger vision loss.
Our clinical genetics team is also investigating genetic editing technology in the hope of developing new treatment options for LHON.
Why this research is important
LHON causes profound loss of central vision (sharpness and colour). It makes reading, driving and recognising faces difficult. We know that central vision is lost because of damage to the optic nerve cells at the back of the eye.
LHON vision loss is most common between the ages of 18-32 years. Our research aims to make discoveries that will lead to treatments to prevent or reverse this devastating condition.
Key research questions
- What are the cellular and molecular changes that occur in LHON?
- What genetic and environment factors protect or trigger vision loss in people with LHON?
- Can genetic editing technology provide treatment options?
- Can understanding the lived experience of people directly or indirectly affected by LHON guide the development of resources or inform research priorities?
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Do large red blood cells increase the risk of vision loss from LHON?