X-linked endothelial corneal dystrophy

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X-linked endothelial corneal dystrophy
Classification and external resources
OMIM 300779

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.

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[edit]

  1. ^ 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. 
  2. ^ Aldave AJ, Han J, Frausto RF (Aug 2013). "Genetics of the corneal endothelial dystrophies: an evidence-based review" (PDF). Clinical Genetics. 84 (2): 109–19. doi:10.1111/cge.12191. PMC 3885339free to read. PMID 23662738. 
  3. ^ Frausto RF, Wang C, Aldave AJ (6 Nov 2014). "Transcriptome analysis of the human corneal endothelium" (PDF). iovs (investigative ophthalmolology and visual science). 55 (12): 7821–30. doi:10.1167/iovs.14-15021. PMC 4258927free to read. PMID 25377225.