As part of its long-term commitment to research, the Save Sight Society distributes research grants to ophthalmologists, trainee ophthalmologists and university departments across New Zealand to support ground-breaking research into eye disease and improve eye care in the New Zealand population.
In 2009 my team at the University of Auckland reached a milestone when we received seed funding from the Save Sight Society New Zealand, The Ombler Trust and Retina New Zealand to establish the New Zealand Database for Inherited Retinal and Optic Nerve Disease. The database would enable us to characterise eye disease in individuals and their family members affected with genetic disorders, from a clinical perspective, and in determining the underlying genetic cause of retinal and optic nerve disorders. This was exciting because it would enhance our understanding of the relationship and spectrum of disease associated with given genes, both within families and between families – resulting in genetic diagnosis for some, improving the chances of being eligible for a clinical trial and, more importantly, for early intervention and treatment.
The database now has over 730 participants, and is a valuable resource which has allowed us to further investigate a group of retinal disorders. This includes the identification of a novel founder genetic mutation in the New Zealand Māori population, the PDE6B gene, causing autosomal recessive rod cone retinal dystrophy. The Genetic Eye Disease Investigation Unit is now characterising this mutation in a zebrafish model of disease, created using gene editing, which will be used to explore the potential for retinal rescue using drugs that act in the altered pathway due to abnormal PDE6B functioning.
Support from the Save Sight Society New Zealand has also enabled my team to carry out further work in the identification of novel genetic changes causing North Carolina macula dystrophy in non-Caucasian patients. This is a rare disease that has previously been linked to Caucasian patients, with a handful of causative genetic mechanisms described. Findings in this area will help our understanding of developmental macular disease. Another one of our projects has identified a novel genetic cause for autosomal recessive retinal disease, and this is being characterised in a zebrafish model.
All these projects have received funding from the Save Sight Society New Zealand.
With local knowledge of eye disease, genetic testing can be tailored to our population. Our work has highlighted that the unique ethnicities and disease present in New Zealand has the potential to contribute to the global understanding of inherited retinal disorders.