Stargardt Disease

Stargardt disease is an inherited eye disease that causes progressive loss of vision. It specifically affects the central part of the retina, known as the macula. Although Stargardt disease is the most common inherited disease of the macula, it’s still considered rare. According to the Foundation Fighting Blindness, an estimated 30,000 people are affected in the United States.

Gene

ABCA4

Disease-causing Mutations

1,000+

Cause

Mutations, or “mistakes,” in both copies of a person’s ABCA4 gene are the most common cause of Stargardt disease. Usually, these mutations are inherited, one from each parent (the parent will not have Stargardt if they only have one copy of the mutation.) ABCA4 is a large gene responsible for making a protein involved in transporting toxins (vitamin A molecules) out of cells. When there is a defect in this gene, the protein is not produced or does not work correctly, leading to the death of retina cells and progressive central vision loss. More than 1,000 different mutations in ABCA4 can lead to Stargardt disease.

Disease Progression

The first sign of vision loss usually occurs in children – but some people don’t start to lose their vision until they’re adults. In the early stages, people may encounter challenges when reading or seeing in low-light situations, have trouble adapting to changes in light and darkness, or experience vision impairments like blurriness or distortion.

While the progression and severity of Stargardt disease can vary, those in the advanced stages will have trouble distinguishing details and shapes, making simple tasks like reading, driving, and recognizing faces challenging or impossible.

Treatment

Vision loss from Stargardt disease can’t be fixed with glasses, contact lenses, or surgery, and no FDA-approved treatment is available – we aim to change that. Using our novel Gene Coding™ technology, the SalioGen team is developing a genetic medicine that can integrate a healthy copy of the ABCA4 gene into the retina to slow or stop the progressive loss of central vision in people with Stargardt disease – regardless of mutation. We are working urgently to advance this potential one-time, non-viral therapy into its first-in-human clinical trial in 2025.

Helpful Resources

Below are organizations that offer resources and information for patients, families, and caregivers living with Stargardt disease. This list is provided for reference only and is not intended as a comprehensive list of resources.