Stargardt/Macular Dystrophy

Macular dystrophy is a form of rare, genetic eye disorder that causes loss of vision. Macular dystrophy affects the retina in the back of a person’s eye. More specifically, it leads to damage of cells in an area in a person’s retina called the, ‘macula.’ The macula is responsible for central vision. When the macula is damaged, people experience difficulty with seeing straight ahead, making it hard to read, drive, or perform other activities of daily living that require fine, central vision. In macular dystrophy, a pigment builds up in cells of the macula. Over a period of time, the substance may damage cells that are crucial for clear vision. An affected person’s vision often times becomes distorted or blurry. Usually, people with macular dystrophy maintain peripheral vision and are not totally blind. Stargardt’s is the most common type of macular dystrophy and usually occurs in a person’s childhood. A different form of Stargardt’s called, ‘fundus flavimaculatus,’ is usually found in adults.

Stargardt’s is characterized by formation of pigmented waste cells in the person’s retina. Macular dystrophy is caused by a genetic mutation. In some people, doctors have identified two specific genes that are affected. Mutations in the BEST1 gene cause Best disease and at times – adult-onset macular dystrophy. Mutations in the PRPH2 gene cause adult-onset macular dystrophy. Symptoms of macular dystrophy can include decreased visual acuity with no clear cause, such as refractive errors or cataracts. If your eye doctor suspects you have macular dystrophy, they might order eye tests that are not a part of a regular eye examination in an attempt to reach a definitive diagnosis. If you have macular dystrophy, you will need to visit a retinal specialist who will assist you with determining the exact nature of the disease.

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