Septo-optic dysplasia, which is also known as De morsier’s syndrome, is a disorder that causes underdevelopment of the optic nerve. People with the disorder also have a malfunction in their pituitary gland, and some may have brain malformation. The disorder is present at birth, and the cause is thought to be a mix of environmental and genetic factors.
Many things have been blamed as causes of septo-optic dysplasia. A connection has been shown between the disorder and very young mothers. There is also evidence that taking certain medications and abusing substances while pregnant might lead to septo-optic dysplasia in certain situations. Pollution from poisons used on farms has even been implicated as a risk factor. Most experts believe that there is also some kind of genetic connection and that the environmental factors are primarily working to increase the risk in those that already have the potential for the disorder.
In terms of symptoms, septo-optic dysplasia is relatively wide-ranging, and the severity can be quite variable. Some of the most common symptoms are a lack of muscle tone and eyes that deviate inward or outward. Some patients may have trouble controlling the movement of their eyes, and others may be totally blind. Many patients might have hormonal imbalances, and some patients may experience frequent seizures.
The vision of people with septo-optic dysplasia often varies. Some don't have any kind of vision at all, and others have an inability to interpret the visual signals they do receive, which leads to confusion. In certain cases, patients have a problem called field loss, which doesn’t allow them a normal level of perceptual range, forcing them to frequently readjust the direction they are looking in.
When doctors identify symptoms of septo-optic dysplasia, they will generally perform certain tests to determine the extent of the disorder. In many cases, they will use a magnetic resonance imaging (MRI) test as a way to see inside the body and survey the level of malformation. Some doctors may also make use of a computed tomography (CT) scan.
In general, doctors treat septo-optic dysplasia by focusing on each aspect of a particular case separately. For example, people with hormone problems may take hormone therapy, while those with vision problems may wear special glasses. People suffering with full blindness can often benefit from the same therapeutic lifestyle adjustments that help other vision-impaired people to live normal lives. There is no actual cure for the disorder or the problems associated with it, so treating symptoms is the only possible option.
