The vast complexity of primary open angle glaucoma: Disease genes, risks, molecular mechanisms and pathobiology

SF Janssen, TGMF (Theo) Gorgels, Wishal Ramdas, Caroline Klaver, Cornelia Duijn, NM (Nomdo) Jansonius, Arthur Bergen

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Abstract

Primary open angle glaucoma (POAG) is a complex progressive optic nerve neuropathy triggered by both environmental and genetic risk factors. Several ocular tissues, including the ciliary body, trabecular meshwork and optic nerve head, and perhaps even brain tissues, are involved in a chain of pathological events leading to POAG. Genetic risk evidence for POAG came from family linkage-studies implicating a small number of disease genes (MYOC, OPEN, WDR36). Recent Genome Wide Association Studies (GWAS) identified a large number of new POAG loci and disease genes, such as CAV1, CDKN2B and GAS7. In the current study, we reviewed over 120 family and GWA studies. We selected in total 65 (candidate) POAG disease genes and proceeded to assess their function, mRNA expression in POAG relevant eye tissues and possible changes in d
Original languageUndefined/Unknown
Pages (from-to)31-67
Number of pages37
JournalProgress in Retinal and Eye Research
Volume37
DOIs
Publication statusPublished - 2013

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