Inherited Retinal Disease (Australia)

About this Priority Setting Partnership

The Inherited Retinal Disease PSP launched in May 2023 and worked with people in Australia living with an Inherited Retinal Disease, guardians and family members of those living with an Inherited Retinal Disease, and health professionals involved in caring for individuals living with an Inherited Retinal Disease. 

The project aimed to identify the priorities for researchers who are working to better diagnose, treat and manage Inherited Retinal Diseases.

The PSP is being run by the Behavioural Sciences Unit, affiliated with the University of New South Wales, Sydney.

The Inherited Retinal Disease (Australia) PSP Top 10 was published in September 2024.

Further information

Vision Loss PSP website

Find out more by visiting the Vision Loss PSP website

Articles and publications

Find out more about related publications from the Vision Loss (Australia) PSP

Top 10 priorities

The most important questions

  1. What treatments can safely prevent, slow down or stop vision loss that occurs for someone with an inherited retinal disease?
     
  2. What is the psychological impact of having an inherited retinal disease, and what support is most effective?
     
  3. What treatments can safely restore vision for someone with an inherited retinal disease?
     
  4. What are the information and psychosocial needs of individuals with an inherited retinal disease, and their families at diagnosis?
     
  5. What training and/or guidelines are needed for health professionals to provide optimal support for individuals with an inherited retinal disease, from diagnosis and beyond?
     
  6. What are the most effective ways to support carers and family members of an individual with an inherited retinal disease?
     
  7. How do environmental and lifestyle factors influence symptoms of inherited retinal diseases and disease progression?
     
  8. What are the most effective ways to manage inherited retinal disease symptoms (e.g., low vision at night)?
     
  9. How can a program to detect inherited retinal diseases as early in life as possible be implemented?
     
  10. What is the anticipated progression of vision loss for each inherited retinal disease?

The following questions were also discussed and put in order of priority at the workshop:

  1. How can equitable access to genetic testing for inherited retinal diseases and genetic counselling be implemented across Australia?
     
  2. How can coordinated support for inherited retinal diseases, from relevant organisations and services (e.g., health services, NDIS), be successfully implemented?
     
  3. What is the best way to facilitate peer-support networks for individuals with an for inherited retinal disease?
     
  4. What is an effective treatment for inherited retinal disease that is not gene-specific?
     
  5. What are the optimal ways to measure an individual's level of vision impairment, specifically for inherited retinal diseases?
     
  6. How can artificial intelligence be used to enhance and expedite research into inherited retinal diseases?
     

Document downloads

For full details of all of the questions identified by this PSP, please see the document below.

Inherited-Retinal-Disease-(Australia)-PSP-data-management-spreadsheet.xlsx

Who is involved

The PSP had a Steering Group, which is the group of people who managed the Inherited Retinal Disease (Australia) Priority Setting Partnership. 

If you have any questions,  feel free to contact the PSP team at visionlossPSP@unsw.edu.au or the PSP lead, Dr Eden Robertson at eden.robertson@unsw.edu.au 

Inherited-Retinal-Disease-(Australia)-PSP-data-management-spreadsheet.xlsx