Congenital endothelial dystrophy type 2


Congenital endothelial dystrophy type 2
Congenital endothelial dystrophy type 2
Classification and external resources

A markedly opaque cornea due to stromal edema secondary to defective endothelial cells (Courtesy of Dr. Ahmed A. Hidajat)
OMIM 217700

Congenital endothelial dystrophy type 2 is a rare form of human corneal dystrophy. It is associated with mutations in SLC4A11 gene.[1]

References

  1. ^ Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T (July 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nat. Genet. 38 (7): 755–7. doi:10.1038/ng1824. PMID 16767101. 

See also



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