Inherited Retinal Disease Study

This Australia-wide project involved partnering with people impacted by an IRD to identify the top 10 research priorities. In a national survey, we collected around 230 questions that people with an IRD, caregivers and health professionals wanted research to address. We consolidated these questions into 42 overarching summary questions and confirmed that 41/42 required further research efforts. We then undertook a national interim prioritisation survey with people with an IRD, caregivers and health professionals to shortlist the 41 unanswered summary questions. Through discussion in online workshops, 24 people with an IRD, caregivers and health professionals agreed to the top 10 research priorities.

On World Retina Day (24th September 2024), we co-launched the Australian research priorities for IRD at NSW Parliament House. This project highlighted that the IRD community highly prioritised both research for treatments, alongside research that will support them to live well with their condition.

Download the full report

Download summary of top 10 priorities

In the media:

https://www.unsw.edu.au/news/2024/09/key-priorities-unveiled-to-tackle-one-of-australia-s-leading-causes-of-blindness

https://www.abc.net.au/listen/programs/am/new-focus-on-inherited-retinal-disease/104387278

Publications:

• Robertson, E.G., Hetherington, K... Wakefield, C.E., Gonzalez-Cordero, A. (2025). Australian research priorities for inherited retinal diseases: a James Lind Alliance priority setting partnership. BMJ Open 2025;15:e100301. doi: 10.1136/bmjopen-2025-100301
• Robertson, E.G., Hetherington, K., Prain, M... Gonzalez-Cordero, A. (2025). Dismantling barriers to research and clinical care for individuals with a vision impairment. The Medical Journal of Australia, 222(7), p.324.

There has been much progress in therapies to treat eye conditions such as inherited retinal disease (IRD) and age-related macular degeneration (AMD). One treatment option that is being developed and tested in the laboratory is stem cell therapies.

The aim of this research study was to understand what people with an IRD, AMD or who are a caregiver (e.g., a parent or spouse) of someone with an IRD or AMD think about stem cell therapies as a potential future treatment option. 

What did this study involve?

Individuals who have been diagnosed with an IRD, AMD or are a caregiver of someone with an IRD or AMD were eligible to participate in our questionnaire and a follow-up interview. 

This study has recently closed and is being prepared for publication. 

In March, 2024, we co-hosted the first Inherited Retinal Disease Patient and Family Engagement Day in Sydney. We then held our second event in October 2025, in Melbourne (at the Vision Australia Conference Centre)

These events were proudly co-hosted by UNSW Medicine & Health (Discipline of Paediatrics) and the Stem Cell Medicine Group at the Children’s Medical Research Institute (CMRI). It was made possible by funding from the Medical Research Future Fund Stem Cell Mission (Chief Investigator: Associate Professor Anai Gonzalez-Cordero, CMRI), UNSW Medicine & Health, and Luminesce Alliance (2024 event), and support from Retina Australia and Vision Australia (2025 event). 

Event recordings

Recordings of the Welcome address from The Hon Mark Butler (Minister for Health and Aged Care), expert presentations and the panel discussion are available for viewing via the buttons below.