Imagine a fit, young 18 year-old man who loves nothing more than kicking a footy with his mates or tinkering under the hood of his first car. He has high hopes for the future; travel, study or entering the workforce - the world is his oyster!
Now imagine he wakes up one day to find that the central vision in his right eye was suddenly gone. Several weeks later, the left eye central vision also disappears, leaving him with only peripheral vision. He doesn't "look blind", but he can no longer drive, recognise faces or read a magazine.
This is the reality for people with Leber's Hereditary Optic Neuropathy (LHON), a rare but devastating inherited disease that affects mostly adolescent males. Patients have normal vision until the teenage years or early twenties, when sudden onset of severe and irreversible vision loss occurs, usually progressing quickly to legal blindness.
LHON is caused by genetic mutations which affect the function of mitochondria (the energy producers in the cell), leading to the death of the optic nerve.
Associate Professor Ian Trounce, Dr Alice Pébay and Dr Alex Hewitt are working on a new stem cell approach to better understand why the optic nerve is susceptible in LHON. They intend to produce pluripotent stem cells (cells that can become any type of cell in the body) from LHON patients' own skin cells. Then, the researchers will coax them to become the type of cell affected in LHON, called a retinal ganglion cell.
The diseased cells will be used to explore new drug treatments ‘in the dish'. "It's an ambitious goal but our initial proof-of-principle pilot study will provide the necessary evidence to help secure future funding and take our research to the next stage," said Associate Professor Trounce.
The CERA team works closely with Professor David Mackey of the Perth Lions Eye Institute who is a world-leading expert on LHON.
The pilot study is supported by the Jack Brockhoff Foundation. Support for CERA research fellow Dr Raymond Wong, who is also part of the team, is provided by the Cranbourne Foundation.
Dr Alice Pebay is a member of Stem Cells Australia.
This story was first published by the Centre for Eye Research Australia on 24 July 2014.