Article
Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma.
Current eye research - 1 Jan 2010
Hogewind Barend F T, Mukhopadhyay Arijit, Theelen Thomas, Hollander Anneke I Den, Hoyng Carel B
Abstract excerpt
PURPOSE: To describe the clinical phenotype in a family with primary open angle glaucoma harboring a p.Gln368X mutation in MYOC. MATERIALS AND METHODS: We identified a proband with primary open angle glaucoma and the p.Gln368X MYOC mutation. She and her six siblings were examined clinically, including Heidelberg Retina Tomography II, and venous blood samples were screened for other variants in MYOC, WDR36, OPTN,...
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