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J Clin Invest. 2010 Sep;120(9):3064-72. doi: 10.1172/JCI43085. Epub 2010 Sep 1.

Glaucoma: genes, phenotypes, and new directions for therapy.

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  • 1Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.


Glaucoma, a leading cause of blindness worldwide, is characterized by progressive optic nerve damage, usually associated with intraocular pressure. Although the clinical progression of the disease is well defined, the molecular events responsible for glaucoma are currently poorly understood and current therapeutic strategies are not curative. This review summarizes the human genetics and genomic approaches that have shed light on the complex inheritance of glaucoma genes and the potential for gene-based and cellular therapies that this research makes possible.

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