Australian Inherited Retinal Disease Register and DNA Bank

The Department of Medical Technology & Physics at Sir Charles Gairdner Hospital has maintained a Register of subjects affected by Inherited Retinal Diseases (IRDs) and their family members since 1984. This Register includes demographic information and the results of electrophysiological, psychophysical and ophthalmological investigations.  Since 2001 DNA has also been collected and stored from subjects.  In 2009 additional funding provided by Retina Australia has enabled the register and DNA bank to be expanded Australia-wide.

The Register currently contains information on more than 3700 people affected with an IRD or their family members. DNA has been collected from more than 2500 of those subjects.

This resource is available to approved researchers interested in further elucidating the varied genetic causes of IRD. DNA and relevant supporting information may be made available to approved researchers upon request. Under no circumstances will information that can identify individuals or families be released.

Some subjects in the Register may be of interest to scientists and clinicians designing clinical trials or providing therapies.  On request those subjects may be contacted by us and referred to the proposed clinical trials or therapies via an approved genetic counselling service, if the subjects have indicated a willingness for this to occur.

Please select IRD DNA Subjects for a complete list of all subjects (unidentified) for whom DNA is stored in the WA DNA Bank, including the best known diagnosis for each subject and the genetic defect thought to be causing the disease (where known).

If you know anyone with an inherited retinal disease who may be interested in donating blood or saliva, discussing their family history, or being sent a pamphlet on this resource, please contact Tina Lamey, Senior Research Scientist, or telephone (08) 9346 2866.

Please also contact Tina Lamey if you are a scientist or clinician wishing to find out more about this resource, with a view to possibly making use of it.

This resource has been made possible by continued generous funding from Retina Australia (WA) (since 1984) and from Retina Australia.