Corneal endothelial dystrophy type 2
Other Names for this Disease
- Congenital hereditary endothelial dystrophy of the cornea
- Corneal dystrophy, congenital hereditary endothelial
- Maumenee corneal dystrophy
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Your QuestionMy five month old daughter is being diagnosed with CHED type 2, however we have no family history of it. I need to find out more information about it with regards to spontaneous mutations that may lead to this rare genetic disorder and how we can get a confirmatory diagnosis.
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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. http://rarediseases.info.nih.gov/gard/6196/ched2/resources/12
Last updated: 3/21/2014
- Klintworth, G.. Congenital hereditary endothelial dystrophy type II. Orphanet. May 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293603. Accessed 3/21/2014.