Stargardt Disease, A Form of Macular Degeneration

The most common form of macular degeneration that affects young people is Stargardt Disease. The disease was discovered in 1909 by Karl Stargardt a German opthalmologist.

Mutations in the gene ABCA4 cause Stargardt (first reported in 1997). They cause the body to produce a dysfunctional protein that cannot transport energy to and from photoreceptor cells in the retina of the eye. As a result, the photoreceptor cells degenerate resulting in loss of vision. Stem cell research is ongoing to secure the success of retinal cell transplants.

Testing the safety of the cell transplants in clinical trials is an important step towards achieving results. The first transplant surgery in an American man aged 34 years old went smoothly and the test subject continues to be monitored in the engraftment of retinal cells and assessing any impact on his sight. The trials retinal cells were grown from stem cells and were transplanted during an operation that lasted just one hour. The cells were developed by Advanced Cell Technology (ACT), a company conducting similar trials in the United States of America.

Stargardt disease is currently untreatable.

Patients diagnosed with the disease are sensitive to glare; so bright sunlight can be troublesome. Vision is most noticeably impaired when the macula (center of retina and focus of vision) is damaged, leaving peripheral vision more intact.

Symptoms of Stargardt generally manifest before the age of 20 years. These include wavy vision, blurriness, impaired color vision, blind spots and difficulty adapting to dim lighting when indoors.

Some patients are able to drive with no hindrance. Many patients can opt to use use magnifiers to help them see, and its recommended to wear wear sunglasses with high protection to slow the development.
 
Future trials will find out if cell transplantation can help protect sight.