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Abstract #90180 Published in IGR 21-3
Primary open angle glaucoma genetics: The common variants and their clinical associations (Review)
Trivli A; Zervou MI; Goulielmos GN; Spandidos DA; Detorakis ETMolecular medicine reports 2020; 22: 1103-1110
Glaucoma is a group of progressive optic neuropathies that have in common characteristic optic nerve head changes, loss of retinal ganglion cells and visual field defects. Among the large family of glaucomas, primary open‑angle glaucoma (POAG) is the most common type, a complex and heterogeneous disorder with environmental and genetic factors contributing to its pathogenesis. Approximately 5% of POAG is currently attributed to single‑gene or Mendelian forms of glaucoma. Genetic linkage analysis and genome‑wide association studies have identified various genomic loci, paving the path to understanding the pathogenesis of this enigmatic, blinding disease. In this review we summarize the most common variants reported thus far and their possible clinical correlations.
Section of Molecular Pathology and Human Genetics, Department of Internal Medicine, School of Medicine, 71003 Heraklion, Greece.
Full articleClassification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
