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There are many different places on the human genome where eye development is encoded, and these areas can have some mutations that cause degenerative eye diseases such as retinal disease, optical atrophy, as well as glaucoma. These diseases can become debilitating, and most of these can be inherited from parents. The Massachusetts Eye and Ear is the first clinic which offers a full diagnostic examination of a patient’s genome to determine whether they are susceptible or have any particular disease. A series of 234 genes are scanned for any aberrations, and the test can generally determine which of these three diseases a patient might have. Both coding portions of the genes, known as exons, and non-coding portions of the genes, called introns, are examined. The exons determine which proteins are coded for, but the introns affect the production of proteins in a less direct manner. Therefore, this test is able to determine the likelihood of an eye disease with much more accuracy than other tests which do not detect as pills store many genes. These diseases are not curable, so these services are made so that patients will have an early warning before they begin to suffer a vision problem, and can take preparatory steps to lessen the impact a vision problem will have on them and their families.
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