The DOI matches its Crossref record; 131 of the 131 references it cites were found in a registry or an index.
Genetics of glaucoma
Open accessAbstract
Genetic and genomic studies, including genome-wide association studies (GWAS) have accelerated the discovery of genes contributing to glaucoma, the leading cause of irreversible blindness world-wide. Glaucoma can occur at all ages, with Mendelian inheritance typical for the rare early onset disease (before age 40) and complex inheritance evident in common adult-onset forms of disease. Recent studies have suggested possible therapeutic targets for some patients with early-onset glaucoma based on the molecular and cellular events caused by MYOC, OPTN and TBK1 mutations. Diagnostic genetic tests using early-onset glaucoma genes are also proving useful for pre-symptomatic disease detection and genetic counseling. Recent GWAS completed for three types of common adult-onset glaucoma have identified novel loci for POAG (primary-open-angle glaucoma) (ABCA1, AFAP1, GMDS, PMM2, TGFBR3, FNDC3B, ARHGEF12, GAS7, FOXC1, ATXN2, TXNRD2); PACG (primary angle-closure glaucoma (EPDR1, CHAT, GLIS3, FERMT2, DPM2-FAM102); and exfoliation syndrome (XFS) glaucoma (CACNA1A). In total sixteen genomic regions have been associated with POAG (including the normal tension glaucoma (NTG) subgroup), 8 with PACG and 2 with XFS. These studies are defining important biological pathways and processes that contribute to disease pathogenesis.
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Primary Open-Angle Glaucoma Preferred Practice Pattern®
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Metadata
- Authors
- Wiggs, J. L., & Pasquale, L. R.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2017-05-16
- Volume
- 26
- Issue
- R1
- Pages
- R21-R27
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2499240546
- Cited by
- 373
- References
- 131
- FWCI
- 21.20
- Type
- journal article
- Language
- en
- Open access
- bronze
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