Late Onset Retinal Macular Degeneration (L-ORD) is an inherited retinal disease and leads to blindness. The gene mutation giving rise to this condition was first identified in Edinburgh and the founder mutation traced to East Lothian. Research into L-ORD in Edinburgh has led to a greater understanding of the gene and the disease, both are necessary in order to develop treatment for this currently incurable condition. Further it appears that L-ORD is a good model for understanding age-related macular degeneration (AMD) the leading cause of registerable blindness in the developed world.
Loss of vision for people with L-ORD and AMD poses a major challenge on an emotional and practical level and has a profound life-long effect on lifestyle and employment opportunities. We have established a multidisciplinary research group at the University of Edinburgh and carried out extensive studies in L-ORD, publishing our findings in basic science and clinical journals (see L-ORD research page).
Our group have described the detailed clinical and imaging features of this condition, the time course in clinical progression, identified the L-ORD gene, developed a “disease in a dish” model and successfully corrected the gene in L-ORD stem cell lines. Our ambition is to translate this knowledge of basic gene and cell mechanisms in L-ORD to developing a pathway to gene therapy, cell replacement and pharmaceutical therapies. We are driven by the urgent need to develop a therapeutic strategy for this currently untreatable disease.