Adamtsl4-related eye disorders

Overview

What are ADAMTSL4-related eye disorders?

ADAMTSL4-related eye disorders are a group of conditions that cause problems primarily with the front of the eye. There can be a wide range of symptoms seen in these patients. This ranges from more severe conditions, such as "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae" to milder differences in the eye structure. Ectopia lentis means that the eye lens is not in the correct position. Ectopia lentis et pupillae means that both the lens and the pupil and displaced. No other parts of the body are affected by these disorders.

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. This protein 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 properly or sometimes 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.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/adamtsl4-related-eye-disorders-8059/overview/2502 • DATE UPDATED: 2017-04-12

References

http://www.ncbi.nlm.nih.gov/books/NBK84111/

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