Professor Mackey has achieved international recognition as a genetic ophthalmologist/scientist. His research over 30 years into the genetics of a broad range of eye diseases resulted in over 500 publications.
He has received continuous NHMRC funding for the last 24 years as well as other national and international support including funding from Retinal Australia.
He led two NHMRC Centres of Research Excellence in the translation of genetic eye disease.
He was involved in early family studies to discover single Mendelian eye diseases including several inherited retinal dystrophy genes as well as leading the first study to show thinning of the retinal vessels is associated with the level of visual field loss – a long taught association but without a definitive prior study. His early gene discovery work on Leber Hereditary Optic Neuropathy continues to be cited along with important recent publications showing 1 in 1000 Australians are at risk of this disease. He continues to be a lead research in international consortia for genome–wide association studies (GWAS).
David is passionate about teaching genetics for people with eye diseases and those caring for them. For ten years he edited the American Academy of Ophthalmology Basic Clinical Sciences textbook chapters on eye genetics. His recent article, What colour are your eyes? Teaching the genetics of eye colour & colour vision has been read over 100,000 times online. In 2019, he was made an Officer (AO) in the General Division of the Order of Australia for “distinguished service to medicine, and to medical education, in the field of ophthalmology, as a clinician-scientist and academic”