• Juvenile Macular Dystrophy Diagnosis and Treatment

    Written By:
    Reviewed By: Ninel Z Gregori MD
    Oct. 19, 2020

    Your ophthalmologist will conduct a dilated eye examination to look at the retina. People with juvenile macular dystrophy have signs specific to their disorder.

    People with Stargardt disease may have yellowish flecks in and under the macula. These flecks sometimes extend outward in a ring-like fashion. The flecks are deposits of lipofuscin, a fatty byproduct of normal cell activity. Liposfuscin builds up abnormally in patients with Stargardt disease.

    Patients with Best’s disease have a yellow cyst that forms under the macula. The cyst eventually ruptures, spreading fluid and yellow deposits. These may harm the macula.

    With juvenile retinoschisis, the retina splits into two layers, which affects the macula. The spaces between these layers can be filled with blisters. Blood vessels can leak into the vitreous, which is the fluid filling the eye. Juvenile retinoschisis can lead to retinal detachments.

    Your ophthalmologist may perform a laser scan of the retina called OCT or fluorescein angiography to confirm the diagnosis. In this test, a dye is injected into your arm. The dye is photographed as it circulates through the blood vessels in your retina. Your ophthalmologist may also order an ERG (electroretinography) test. This test measures the electrical activity of the retina. Special labs now do genetic testing. They can find the exact gene that is causing the disease. This is important to know because different genes can cause the same appearance of the retina.

    How is juvenile macular dystrophy treated?

    There is no cure for juvenile macular dystrophy yet. But there are multiple gene therapy clinical trials underway. Gene therapy is a treatment that corrects the abnormal gene in the retina. These treatments may be able to slow progression of the disease and prevent vision loss.

    Wearing sunglasses to protect the eyes from UV light and bright light is helpful. Low vision aids and mobility training can help people adjust to their vision loss. It is important to get genetic testing through your ophthalmologist. This tells you which specific gene is causing your macular dystrophy.

    With juvenile retinoschisis, the retina splits into two layers, which affects the macula. The spaces between these layers can be filled with blisters. Blood vessels can leak into the vitreous, which is the fluid filling the eye. Juvenile retinoschisis can lead to retinal detachments. Your ophthalmologist may perform a fluorescein angiography to confirm the diagnosis. In this test, a dye is injected into your arm. The dye is photographed as it circulates through the blood vessels in your retina. Your ophthalmologist may also order an ERG (electroretinography) test. This test measures the electrical activity of the retina.