Stargardt’s disease is an inherited disorder of the retina. This disease starts to develop visual changes in patients in their childhood or teenage years. The changes are gradual but constant until their vision is decreased approximately to 20/200 or worse uncorrected. This condition is also called Stargardt’s macular dystrophy, juvenile macular degeneration, or fundus flavimaculatus. This disease damages or degenerates the macula, which is in the retina. The macula is the area in the eye that delivers sharp straight-ahead vision.
Patients with Stargardt’s experiences a slow and constant central vision loss, hence, becoming sensitive to bright lights. The retina contains light-sensing cells called photoreceptors. These are called rods and cones. Both rods and cones photoreceptors gradually die due to this disease.
As we mentioned earlier, this disease is inherited in most instances due to a mutation in a gene called ABCA4. The ABCA4 gene created a protein that clears Vitamin A byproducts inside the photoreceptors. Due to the cells not being cleansed, the cells become full of fatty substances and consequently the cell dies. This degeneration starts to happen around the macula which is the reason why patients start losing their central vision.
To diagnose Stragardt’s disease, an eye physician needs to do a thorough and complete eye exam.
The following tests are recommended:
- Slit eye exam. An eye physician will see the fatty deposit in the macular under the microscope if Stargardt’s is present
- Visual field testing to determine the areas and progression of the disease
- Color testing determine if the patient is becoming color blind
- A fundus photo which is a detailed picture of the retina
- An electroretinography (ERG) measures the response of cones and rods to light
- Optical Coherence Tomography (OCT) which is a light wave scanning device of the retina
Unfortunately, there is no treatment for Stargardt’s. Patients are encouraged to wear dark sunglasses, not to smoke, and not to take Vitamin A supplements. Low vision aids are quite sophisticated right now and they can lend a lot of help by magnifying images or providing voice commands. Many Stargardts patients become visually disabled in their 20s which can take a significant emotional toll on the individual and their loved ones. Good medical eye care, counseling, and a supportive circle of friends and family are necessary to best confront this disease. There are multiple studies and research worldwide in the works addressing the degeneration of the macula. We look forward, with anticipation, to a new treatment in the medical field to aid all our patient’s with Stargardt’s and Macular Degeneration.