Stargardt's disease (Macular dystrophy): What is it? What causes it? What are the symptoms? What is the treatment?

Stargardt’s disease, sometimes called Stargardt macular dystrophy, is a rare form of macular degeneration (loss of function in the macula) in young people, most being children. It affects the macula, a small area in the center of the retina which allows one to have sharp, central vision. The disease is almost always diagnosed in childhood or adolescence, progressing through the loss of vision over time.

Stargardt’s is usually caused due to mutations in a gene called ABCA4, which is responsible for the production of a protein which is extremely important to allow the photoreceptor cells in the retina to function properly. If these mutations occur in a child’s body, a fatty substance called lipofuscin tends to accumulate in the macula in the RPE cells (retinal pigment epithelium cells) and causes cell death, which leads to blindness.

Hallmark symptoms of Stargardt’s disease include a gradual loss of central vision, but sometimes differentiate further into blurry or distorted vision (straight lines start to appear wavy), difficulty recognizing faces (as the loss of central vision means that the eye is unable to maintain a central focus, increased sensitivity to light (causing photophobia in some extreme cases), and occasionally, a difficulty in distinguishing between different colors.

As of now, there is no cure-all treatment for Stargardt’s, but treatment is still administered to prevent progression and further degeneration of the macula. Experimental therapies that have shown promise and are working for some people, include gene therapy and stem cell therapy (which involves injecting induced pluripotent adult stem cells into the retina of the patient.) To allow people with the disease to function properly in society, low vision aids and other devices may help them adapt to the visual challenges they are provided with.

Stargardt’s disease is a progressive condition, and the prognosis varies among individuals. For some people, it can progress faster than others. The rate of loss of vision and disease progression is variable amongst different patients, which makes it hard to provide a one-timeline-fits-all to patients and their families.

The Stargardt’s disease poses significant challenges to its patients, by impacting central vision and reducing daily function of the eye. But, with time, stem cell therapy and gene therapy may become advanced enough to cure all people with Stargardt’s, and allow them to function just as well as others. Until then, visual aids and other low-vision devices can come to our savior, and let people with Stargardt’s thrive.