Cracking MacTel 2’s genetic code

Carol Whittle first noticed something was wrong with her sight when she was reading the newspaper.


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“It seemed like words were missing,’’ Carol says, “so I went to see my optometrist.’’

After a series of tests, Carol was diagnosed with the rare genetic disease macular telangiectasia type 2 (MacTel 2).

“No-one in my family knew of anyone who had it, or had any serious vision problems.’’

MacTel 2 is a rare, untreatable disease which causes a loss of central vision. Fortunately for Carol, her symptoms have not deteriorated. However, she is keen to help others who live with MacTel 2 and is now part of research at CERA to help find a treatment for the disease.

In 2019 CERA was part of an international consortium that published research in the New England Journal of Medicine, identifying two new genes associated with MacTel 2 and linking low levels of the amino acid serine to the disease.

The findings pave the way for potential future treatments for MacTel 2 and provide important clues for researchers studying other macular and neurodegenerative diseases.

Professor Robyn Guymer AM and her team have been part of the MacTel 2 study, led by Professor Martin Friedlander from the Lowy Medical Research Institute for 15 years.

The research was funded by the Lowy Medical Research Institute, Australian National Health and Medical Research Council, National Eye Institute (US), National Institutes of Health (US) and National Science Foundation (US).

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