The Western Australia Retinal Degeneration Study

The purpose of this research is to understand the molecular mechanisms of eye disease and to correlate this with variations in the speed of deterioration and disease manifestation between individuals. Part I of this project is to monitor the retina once every 6 months through a series of detailed tests which allows us to determine if the disease has progressed over a 5 year period. Part II of this project is to collect blood, urine saliva, skin and or eye tissues to study RNA, DNA and biomarkers in the blood and to create induced pluripotent stem cells from somatic cells. Combining Part I and Part II of the study will facilitate discovery of new methods or biomarkers to better predict retinal disease progression and future treatment response. Part I: High resolution retinal imaging can provide information on microscopic changes within the living retina. Fundus autofluorescence, optical coherence tomography and adaptive optics imaging are new techniques that may enhance our ability to detect very subtle changes within the retina in patients with slowly progressive retinal degeneration. The aim of part I of the research is to find out if new methods of analysis can detect changes in these serial retinal images over a period of years which an experienced image grader is unable to identify or measure. Part II: Biomarkers in the blood will be analysed. This includes anti-retinal antibodies, RNA and DNA. Induced pluripotent stem (iPS) cells are stem cells generated in the laboratory, generally from skin cells that have been reprogrammed and induced to become pluripotent that is, they have the ability to form any cell type of the body. This characteristic makes iPS cells similar to embryonic stem cells with the potential to form any organ in the body. The aim of part II of the research is to generate iPSC from skin cells of people with retinal disease. This will allow the development of stem cell lines that will then be studied to further understand the mechanisms of disease. This can be correlated with specific genetic variants to determine how genetic mutations cause disease and vision impairment. Importantly, new knowledge into the molecular mechanisms of disease can help to identify potential targets for therapies for people with eye disease. This research is based at the Lions Eye Institute incorporating the Centre for Ophthalmology & Visual Science, The University of Western Australia.