From the lab to the clinic: A/Prof Fred Chen

Unlocking the secrets of Stargardt disease

Unlocking the secrets of Stargardt disease

Stargardt disease – also called Stargardt dystrophy or fundus flavimaculatus – is a genetic eye disease caused by more than 1000 different mutations, or changes, within a single gene called the ABCA4 gene. It affects one in every 10,000 people and is the most common of the 250 types of inherited retinal diseases that affect the sight of 15,000 Australians.

Ophthalmologist and 2017 MDFA Research Grant recipient Associate Professor (A/prof) Fred Chen has been working to find treatments and establish guidelines for the management of people with Stargardt disease in his dedicated retinal dystrophy clinic at the Lions Eye Institute (LEI).

Some of these patients lost their vision when they were as young as seven, while others only noticed symptoms in their 70s, when the condition may masquerade as AMD. This extreme spectrum of disease manifestation is due to the large number and varied severities of mutations of the ABCA4 gene, which causes the condition.

As well as identifying several new mutations of this gene, A/Prof Chen’s team used patients’ own skin cells to study the effect of different genetic faults to develop personalised treatments for these mutations.

Testing on miniature retinas, grown in the lab

Through this project, A/Prof Chen and his team were able to grow miniature retinas from skin cells. This enabled them to test and modify drugs using cells in the laboratory rather than using an animal model or risking patients’ eyes in the early stages of the development.

MDFA funding allowed A/Prof Chen to study Stargardt disease in more than 100 patients in his clinic at the Lions Eye Institute (LEI). The findings from his research, and collaborations with the Australian Inherited Retinal Diseases Registry, Genetic Services of WA and Murdoch University, has established a management plan for assessing and diagnosing Stargardt disease. People suspected of having the condition now receive genetic testing and counselling support, as well as information and eligibility for clinical trials.

Following A/Prof Chen’s project, Lions Eye Institute was chosen as a clinical trial site for Stargardt disease in Australia, testing a new treatment that may prevent progression. The trial is ongoing with updates due at the end of 2024.

A/Prof Chen’s team earned an NHMRC Ideas Grant in 2020 and a Bowen Foundation Grant in 2021 to continue this ground-breaking work, which gives hope for an effective treatment in future.

Learn more about what makes A/Prof Chen tick, in this interview from 2017, when he was awarded the MDFA Research Grant.

My one wish as an ophthalmologist and researcher in macular disease is that one day I can tell my patients, who are affected by whatever form of macular degeneration, that we have the treatment to prevent them from going blind, or to restore their vision.

A/Prof Fred Chen

Posted: 21 February 2024. This article first appear in our publication 10 Years of Impact: Reflecting on the impact of investing into macular disease research.