Before Fox News talk show host Glenn Beck announced that he had been diagnosed with macular dystrophy, few of his viewers had ever heard of this condition. The news that he might become blind within the next year was sobering.
What Exactly is Macular Dystrophy?
According to WebMD, macular dystrophy is a rare genetic disorder that results in loss of vision. It strikes the retina, which is located at the back of the eye. The condition causes damage to cells known as macula. Damage to the macula makes it difficult for patients to see straight ahead and focus on objects.
This problem is often mistaken in conversation for a better-known disorder, macular degeneration.
Causes
Experts recognize two types of macular dystrophy. The one that typically develops in childhood and results in varying degrees of loss of vision is known as Best disease. The other form usually strikes in mid-adulthood and typically results in gradual vision loss.
A patient with Best disease could have just one parent who passed along the gene for the disorder. Exactly how the condition gets passed along to patients of adult-onset macular dystrophy has eluded researchers since many of these individuals report no other relatives with it.
The precise cause of the disorder is a genetic mutation. In some patients, two genes were affected. Changes in the BEST1 gene are responsible for Best disease and, on occasion, the adult-onset disorder. Mutations associated with the PRPH2 gene have been proven directly responsible for the adult-onset variety. Most patients never find out which gene caused their problem.
Researchers are also still puzzled why genetic mutations cause a pigment buildup in the macula and why only central vision suffers.
Symptoms
While adults can readily articulate changes in their vision, such as loss of the ability to focus, the situation with children is different. Parents and caregivers must be vigilant to notice changes in a young child’s behavior.
Sometimes a child suddenly starts having problems in school. Very young children often avoid playing with small toys. Turning the head to the side to see better is common at all ages.
Since the macula of the eye are responsible for central vision, once they’re damaged, it becomes difficult for individuals to see straight ahead. Their vision typically becomes distorted or blurry. They’re usually not completely blind because they retain peripheral vision.
Treatment
No treatment for macular dystrophy is considered effective. There is usually no way to halt the loss of sight. However, macular-dystrophy.com reports that there are a number of ways to help an individual with this disorder adapt to his or her environment.
Wearing a hat with a wide brim can help avoid problems caused by bright light. Most patients can read more easily with bright lighting and crisp black print on a clean white background. Some find it easiest to read with the book placed on a slope. A number of commercial software programs can display just one word of a sentence at a time. One is called ACE READER.
Adults can deliberately group toys to make it easier for a child with macular dystrophy to play with them. This means placing just one or two toys at a time on a plain background.
Patients find it easier to recognize facial expressions if the individual approaching knows about any limits in the visual field and tries to always stay within an acceptable distance. Some families will want to investigate whether hiring visiting teachers and therapists can benefit their children with macular dystrophy.
Sources:
http://www.glennbeck.com/
http://www.webmd.com/eye-health/macular-dystrophy
http://www.macular-dystrophy.com/
