Late Onset Retinal Degeneration (L-ORD)

What is L-ORD?

Professor Baljean Dhillon describes what Late Onset Retinal Degeneration is and sets out where we are in terms of research at the University of Edinburgh and elsewhere.

 

 

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.