Stargardt disease is a progressive eye condition that leads to macular degeneration, hampering the part of the retina responsible for clear central vision. Also known as juvenile macular degeneration and fundus flavimaculatus, the condition is inherited and has been linked to mutations of the ABCA4 gene. Stargardt disease typically results in significant vision loss during childhood or adolescence. While the majority of patients do not become completely blind, it is common for patients to have visual acuity of 20/200 or worse. The prevalence of Stargardt disease is estimated to be approximately one in every eight to ten thousand individuals.
In the early stages of this condition, patients generally notice gray, black, or blurry areas within their central visual field, and they may also find it takes their eyes longer than usual to adjust when moving from a sunlit room into a darker environment. Bright light may begin to irritate the eyes, and some patients lose color vision and some peripheral vision as the disease advances.
While there is currently no treatment for Stargardt disease, eye specialists frequently recommend for patients to avoid taking vitamin A supplements, which may accelerate vision loss associated with this disease, and both smoking and exposure to secondhand smoke should be avoided. Low-vision aids may make daily activities easier, and patients might benefit from occupational therapy and counseling services.
To diagnose Stargardt disease, eye doctors may perform the tests described below.
Optical Coherence Tomography
Optical coherence tomography is a noninvasive, painless test ophthalmologists perform to get a detailed view of each layer of the patient’s retina. The test uses light waves to produce photos of cross-sections of the retina. This information enables the clinician to map the patient’s retina and measure the thickness of each layer. Before having optical coherence tomography, the patient will need to have their eyes dilated. After administering a numbing drop, the ophthalmologist will place several dilating eye drops into each of the patient’s eyes. Dilating the eyes widens the pupil, and this makes it easier for the doctor to perform a close examination of the retina.
Once the eye drops are working, the patient will sit in front of a special machine, resting their head on the machine to prevent movement. Next, the machine will scan both of the patient’s eyes. This takes between five to ten minutes, and the machine will not touch the eyes during the scanning process. If dilating eye drops have been used, the patient may experience sensitivity to light for several hours, and it may be necessary for someone else to drive the patient home.
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