This week I'm joined by special guest Associate Professor Lauren Ayton to discuss inherited retinal diseases.

One time not long ago, there was very little we could do to change the prognosis of inherited retinal diseases. People with Retinitis Pigmentosa. Choroideremia. Leber congenital amaurosis. Stargardt's disease. To name but a few. All conditions we previously monitored, and could only counsel on. But critical advances in research over the last decade now provide hope to people with such conditions.

Resources

• Retina Australia: https://retinaaustralia.com.au/
• An optometrist guide to the top candidate inherited retinal diseases for gene therapy: https://doi.org/10.1080/08164622.2021.1878851
• The Australian Inherited Retinal Disease Register and DNA Bank is Australia’s largest DNA ban collecting family history and genetic samples, but not comprehensive clinical data (which is captured by state-based registries – below). The AIRDR has proudly been funded by Retina Australia since its inception in 2009. https://www.scgh.health.wa.gov.au/Research/DNA-Bank
• The VENTURE Registry is a collaboration between the Centre for Eye Research Australia and the University of Melbourne which collects both clinical and genetic information on people living with IRDs in Victoria. This registry also includes female carriers of X-linked IRDs. https://www.cera.org.au/research/venture-study/
• The Save Sight Institute IRD Registry is based in NSW and led by an ophthalmologist (Prof Grigg) and geneticist (Prof Jamieson), collecting both clinical and genetic data on people living with IRDs. https://www.sydney.edu.au/save-sight-institute/our-research/eye-genetics-inherited-retinal-diseases/inherited-retinal-diseases.html
• The Western Australia Retinal Disease (WARD) study is based at the Lions Eye Institute in Perth, collecting clinical and genetic information on people with IRDs. The Lead Investigator, A/Prof Fred Chen, is also the Head of the Ocular Tissue Engineering Laboratory at Lions, developing new treatments for IRDs. https://www.lei.org.au/research/clinical-trials/the-western-australian-retinal-degeneration-ward-study-lions-eye-institute-retina-australia/

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