Adamtsl4-related eye disorders
What gene changes cause ADAMTSL4-related eye disorders?
Changes in the ADAMTSL4 gene cause the ADAMTSL4-related eye disorders. These changes within the gene are usually small differences in the way the gene is spelled, called "sequence variants."
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What happens because of the ADAMTSL4 gene change?
Normally, the ADAMTSL4 gene gives the instructions to the body to make a protein that helps to keep the parts of the eye in the right places. It helps form the body's connective tissue, like ligaments, that hold parts of the body in place. When a person has changes in both of their copies of this gene, like in an
ADAMTSL4-related eye disorder, the protein cannot be made correctly or not at all . This means the connective tissue does not work as well as it should, especially in the eye, which causes the symptoms seen in these disorders.
Does anything make ADAMTSL4-related eye disorders worse?
Trauma to the eyes can make the symptoms of ADAMTSL4-related eye disorders worse. Trauma especially raises the risk of detachment of the retina. Therefore, contact sports, boxing, and martial arts should be avoided to prevent trauma to the head and eye.
Is this ADAMTSL4 gene change a predisposition or a cause of ADAMTSL4-related eye disorders?
Changes in the ADAMTSL4 gene cause the related disorders. There can, however, be variability with how some are affected when they have this gene change. Some people are affected with more severe eye changes and some people more mildly--even within the same family.