Medicine:X-linked endothelial corneal dystrophy
From HandWiki
| X-linked endothelial corneal dystrophy | |
|---|---|
| Other names | XECD |
| Specialty | Ophthalmology |
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]
References
- ↑ "A new, X-linked endothelial corneal dystrophy". Am. J. Ophthalmol. 141 (3): 478–487. March 2006. doi:10.1016/j.ajo.2005.10.020. PMID 16490493.
- ↑ "Genetics of the corneal endothelial dystrophies: an evidence-based review". Clinical Genetics 84 (2): 109–19. Aug 2013. doi:10.1111/cge.12191. PMID 23662738.
- ↑ "Transcriptome analysis of the human corneal endothelium". Investigative Ophthalmology & Visual Science 55 (12): 7821–30. 6 Nov 2014. doi:10.1167/iovs.14-15021. PMID 25377225.
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