Stargardt Disease

Stargardt disease is a rare genetic disorder that affects central vision. The disease often manifests in childhood and leads to legal blindness within the second or third decade of life.¹ Stargardt disease is caused by mutations of the ABCA4 gene that lead to the formation of fluorescent metabolic lipid byproducts of the visual cycle (i.e., lipid-bisretinoids).¹ These mutations result in abnormal accumulation of lipofuscin and cellular toxicity.¹ Lipofuscin accumulation in human retinal pigmented epithelial (RPE) cells correlates directly with RPE cell death, which leads to macular degeneration.¹

Signs and Symptoms²

Currently, there is no cure or approved treatment for Stargardt disease. The number of people affected in the United States is currently about 32,000, with 355 new patients diagnosed annually.² Estimates in Europe are around 50,000 diagnosed patients, with about 500 new diagnoses annually.² The incidence rate is 1 in 8,000 to 10,000 worldwide.¹

With this in mind, research and development for therapies are central to combating this disease. Until an effective gene therapy is developed and made accessible, chronic treatments, such as REV-0100, will be the only option for disease management. Even with the approval of a gene therapy, accessibility and success rate will still be barriers to treatment for many patients.