Corneal endothelial dystrophy type 2

How is corneal endothelial dystropy type 2 inherited?

Most cases of corneal endothelial dystrophy type 2 are caused by homozygous mutations in the SLC4A11 gene. The condition is transmitted in an autosomal recessive manner. This means that two unaffected parents each carry one copy of a gene mutation for the condition. Neither parent will show signs or symptoms of the condition because two copies are needed for the condition to occur. There have been several families with corneal endothelial dystrophy type 2 where no mutation was found in the SLC4A11 gene. To find laboratories offering genetic testing to confirm a diagnosis, please visit the Tests and Diagnosis section of the Web site.

Last updated on 05-01-20

Name: Corneal Dystrophy Foundation 6066 McAbee Rd.
San Jose, CA, 95120 , United States
Phone: 1-866-807-8965 Email: Url:
Klintworth, G.. Congenital hereditary endothelial dystrophy type II Orphanet. May 2012; Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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