raw data for Psammomys model of Stargardts Disease

Stargardts Disease (SD) is the most common human inherited macular degeneration, leading to irreversible loss of central vision in children and young adults. Despite identification of the causal gene, Abca4, over 25 years ago, animal models of SD have been only partially successful. Although knockout mouse models show some features, such as lipofuscin accumulation, most lines show little to no cell loss or functional decline characteristic of the human disease. We reasoned that use of a diurnal cone-rich rodent whose retina resembles those of humans more closely would be a better model. Using virally mediated transfer of CRISPR-CAS9 sequences to inhibit Abca4 expression, which show that indeed such animals exhibit the complete disease phenotype, with rapid widespread photoreceptor, especially cone, loss accompanied by significant declines in visual sensitivity and lipid accumulation. Such models represent a significant step forward in this field of research and will facilitate better understanding of disease mechanisms and development of therapeutic strategies.