What is Stargardt disease?

It affects approximately 1 in 8,000 to 10,000 people and is caused by changes in a gene called ABCA4, which is important for keeping the retina healthy. Because this gene does not work properly, waste material called ‘lipofuscin’ builds up in the cells that support the retina, leading to gradual damage of the light sensing cells responsible for sharp, central vision.

People with Stargardt disease typically notice blurred central vision, difficulty reading, problems recognizing faces, or trouble seeing in dim light. Although the condition often begins in childhood or the teenage years, some people develop symptoms later in adulthood. Stargardt disease is highly variable: even members of the same family may experience different symptoms or rates of progression.

Stargardt disease is inherited in an autosomal recessive pattern, which means a person must inherit two faulty copies of the ABCA4 gene, one from each parent, to develop the condition. Parents are usually healthy carriers without symptoms. Genetic testing helps confirm the diagnosis, guides family counselling, and is increasingly important for determining eligibility for research studies and emerging therapies.

There is currently no approved treatment for Stargardt disease, but several promising therapeutic approaches are under investigation. Scientists and companies like AAVantgarde are actively exploring gene therapy to replace the faulty ABCA4 gene with the aim to preserve remaining vision. Other companies are exploring stem cell therapy to restore damaged retinal cells, and drug treatments designed to slow or reduce the buildup of toxic byproducts in the retina. Clinical trials in each of these areas are ongoing, marking a period of significant progress and hope for patients and families.

Learn more about our Stargardt clinical trial here.