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PURPOSE: Glaucoma is a disease of the retinal ganglion cells, leading to reduction of peripheral vision. It is often associated with an increase in intraocular pressure, leading to mechanical stress of tissues. The oculomedin gene is activated by such stretching and is therefore a candidate for causing glaucoma. METHODS: The coding sequence and part of the promoter was screened for sequence variants in Swedish cohorts of primary open angle glaucoma, exfoliative glaucoma, and matched controls. RESULTS: Only rare variants were detected in the patient material. CONCLUSIONS: There was no evidence that the oculomedin gene participates in the etiology of glaucoma.
Dr. M. Jansson, Department of Genetics and Pathology, Unit of Clinical Genetics, Uppsala University, Uppsala, Sweden
1.2 Population genetics (Part of: 1 General aspects)