Genetics of corneal endothelial dystrophies
- PMID: 20090209
- DOI: 10.1007/s12041-009-0067-1
Genetics of corneal endothelial dystrophies
Abstract
The corneal endothelium maintains the level of hydration in the cornea. Dysfunction of the endothelium results in excess accumulation of water in the corneal stroma, leading to swelling of the stroma and loss of transparency. There are four different corneal endothelial dystrophies that are hereditary, progressive, non-inflammatory disorders involving dysfunction of the corneal endothelium. Each of the endothelial dystrophies is genetically heterogeneous with different modes of transmission and/or different genes involved in each subtype. Genes responsible for disease have been identified for only a subset of corneal endothelial dystrophies. Knowledge of genes involved and their function in the corneal endothelium can aid understanding the pathogenesis of the disorder as well as reveal pathways that are important for normal functioning of the endothelium.
Similar articles
-
Molecular bases of corneal endothelial dystrophies.Exp Eye Res. 2012 Feb;95(1):24-34. doi: 10.1016/j.exer.2011.08.002. Epub 2011 Aug 10. Exp Eye Res. 2012. PMID: 21855542 Free PMC article. Review.
-
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415. Hum Mol Genet. 2001. PMID: 11689488
-
Corneal dystrophies.Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Orphanet J Rare Dis. 2009. PMID: 19236704 Free PMC article. Review.
-
Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies.Sci Rep. 2019 Jul 4;9(1):9681. doi: 10.1038/s41598-019-46094-y. Sci Rep. 2019. PMID: 31273259 Free PMC article.
-
Corneal dystrophies.J Fr Ophtalmol. 2017 Jun;40(6):e177-e192. doi: 10.1016/j.jfo.2017.05.003. Epub 2017 Jun 3. J Fr Ophtalmol. 2017. PMID: 28583694 Review.
Cited by
-
TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.PLoS One. 2017 Aug 23;12(8):e0183719. doi: 10.1371/journal.pone.0183719. eCollection 2017. PLoS One. 2017. PMID: 28832669 Free PMC article.
-
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.Eur J Hum Genet. 2012 Jun;20(6):632-8. doi: 10.1038/ejhg.2011.248. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234156 Free PMC article.
-
Abnormal regulation of extracellular matrix and adhesion molecules in corneas of patients with keratoconus.Int J Keratoconus Ectatic Corneal Dis. 2016 May-Aug;5(2):63-70. doi: 10.5005/jp-journals-10025-1123. Int J Keratoconus Ectatic Corneal Dis. 2016. PMID: 28989906 Free PMC article.
-
Genetics in Keratoconus: where are we?Eye Vis (Lond). 2016 Jun 27;3:16. doi: 10.1186/s40662-016-0047-5. eCollection 2016. Eye Vis (Lond). 2016. PMID: 27350955 Free PMC article. Review.
-
Identification of novel molecular markers through transcriptomic analysis in human fetal and adult corneal endothelial cells.Hum Mol Genet. 2013 Apr 1;22(7):1271-9. doi: 10.1093/hmg/dds527. Epub 2012 Dec 20. Hum Mol Genet. 2013. PMID: 23257286 Free PMC article.