X-linked endothelial corneal dystrophy (XECD) is a rare form of corneal dystrophy described first in 2006, based on a 4-generation family of 60 members with 9 affected males and 35 trait carriers, which led to mapping the XECD locus to Xq25.[1] It manifests as severe corneal opacification or clouding, sometimes congenital, in the form of a ground glass, milky corneal tissue, and moon crater-like changes of corneal endothelium. Trait carriers manifest only endothelial alterations resembling moon craters.[citation needed]
As of December 2014, the molecular basis for this disease remained unknown, although 181 genes were known to be within the XECD locus, of which 68 were known to be protein-coding.[2][3]
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References
- ^ Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR (March 2006). "A new, X-linked endothelial corneal dystrophy". Am. J. Ophthalmol. 141 (3): 478–487. doi:10.1016/j.ajo.2005.10.020. PMID 16490493.
- ^ Aldave AJ, Han J, Frausto RF (Aug 2013). "Genetics of the corneal endothelial dystrophies: an evidence-based review". Clinical Genetics. 84 (2): 109–19. doi:10.1111/cge.12191. PMC 3885339. PMID 23662738.
- ^ Frausto RF, Wang C, Aldave AJ (6 Nov 2014). "Transcriptome analysis of the human corneal endothelium". Investigative Ophthalmology & Visual Science. 55 (12): 7821–30. doi:10.1167/iovs.14-15021. PMC 4258927. PMID 25377225.
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This page was last edited on 13 January 2024, at 03:09