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National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-.

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Genes and Disease [Internet].

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"Glaucoma" is a term used for a group of diseases that can lead to damage to the eye's optic nerve and result in blindness. The most common form of the disease is open-angle glaucoma, which affects about 3 million Americans, half of whom don't know they have it. Glaucoma has no symptoms at first but over the years can steal its victims' sight, with side vision being affected first.

It is estimated that nearly 100,000 individuals in the US suffer from glaucoma due to a mutation in the GLC1A gene, found on chromosome 1. There has been some speculation as to the role of the gene product in the eye. As it is found in the structures of the eye involved in pressure regulation, it may cause increased pressure in the eye by obstructing the aqueous outflow.

With early treatment, serious loss of vision and blindness can be prevented. The cloning of the GLC1A gene is the first step toward an understanding of the pathology of glaucoma at the molecular level and may help in the development of tests for the early detection of the disease, as well as providing a basis for research into effective therapies.


Gene sequence

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