Stargardt Knowledge

Symptoms

Stargardt disease usually develops in children, teenagers, and young adults. Some individuals may first notice problems with their central vision. It can be blurry, distorted or have dark areas. Side vision is usually not affected. Some people may have trouble seeing colors.

It may take longer than usual for vison to adjust when going between bright and dark areas.

For some people, Stargardt disease progresses slowly, then speeds up and levels off. At about 20/40 vision meaning someone sees at 20 feet what a normal seeing person sees at 40 feet. Vision loss can speed up. Vision may rapidly get worse until it reaches about 20/200. After this point, vision generally stays about the same.

While central vision will be lost, some people maybe legally blind. Many people with Stargardt disease may keep good side vision for the rest of their lives.

Who Is at Risk for Stargardt Disease?

Usually Stargardt disease is passed down from parents. With the classic Stargardt disease, faulty genes the ABCA4 gene must be passed down from both parents to have symptoms. Individuals who has the gene from only one parent will be a carrier for Stargardt disease, but will not have symptoms. Other forms of Stargardt disease need a gene from only one parent to cause symptoms, but those are very rare.

Diagnosis

Your ophthalmologist will dilate widen your eyes pupils to look at your retina . People with Stargardt disease have yellowish flecks called lipofuscin in and under the macula. Sometimes these flecks extend outward in a ring. Lipofuscin are fat deposits from normal cell activity. These deposits build up more in people with Stargardt disease than in other people.

A test called Fluorescein angiography may be used. In this test, a dye is injected into your arm. The dye is photographed as it circulates through the retina’s blood vessels. In people with Stargardt disease, the photos show a dark area within tissue of the retina. This helps the ophthalmologist diagnose Stargardt disease.

Genetic testing is now available to precisely diagnose what type of macular degeneration a patient has. This is the surest way to know the genetic basis for your condition.

Treatment

Unfortunately, there is no available treatment for Stargardt disease. But there are several gene therapy and drug therapy trials going on. With genetic testing, you will know your faulty gene, and can look for and decide to take part in a current trial.

Wearing sunglasses may help with the bright light sensitivity of Stargardt disease. Wearing sunglasses can also prevent further retina damage from the sun’s harmful ultraviolet (UV) rays.

People with Stargardt disease should not smoke cigarettes or be around cigarette smoke. Also, some studies suggest that taking a lot of vitamin A could may make the disease worse. While the vitamin A in foods is fine, avoid taking large doses of vitamin A supplement.

There are genetic treatments already for similar diseases. Doctors are hopeful that Stargardt disease can be treated soon as well. There are helpful resources for people adjusting to vision loss. These can include special devices, useful tips for daily living and training to help you get around. Ask your ophthalmologist to help you find low vision resources.

What does it mean if a disorder seems to run in my family?

A particular disorder might be described as running in a family if more than one person in the family has the condition. Some disorders that affect multiple family members are caused by gene variants also known as mutations, which can be inherited passed down from parent to child. Other conditions that appear to run in families are not caused by variants in single genes. Instead, environmental factors such as dietary habits, pollutants, or a combination of genetic and environmental factors are responsible for these disorders.

If you have any questions, be sure to ask. Your ophthalmologist is committed to protecting your sight.

Dr Gary Yau – Ophthalmologist Retina Specialist

Dr S Markowitz – Ophthalmologist Low Vision Specialist