Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Corneal dystrophy Fuchs endothelial 1


Other Names for this Disease

  • Corneal dystrophy Fuchs endothelial early-onset
  • Early-onset Fuchs endothelial corneal dystrophy
  • FECD1
  • Fuchs endothelial corneal dystrophy 1
  • Fuchs' endothelial dystrophy type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have been diagnosed with Fuchs dystrophy and I have two sons. Is there a genetic test for them to determine if they have the same condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is Fuchs dystrophy inherited?

The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene, it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is seen in some situations in which the condition is caused by changes in an unknown gene. However, in many cases, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family. Due to the complex nature of the inheritance of this condition, we strongly recommend you discuss your concerns with a genetics professional.[1]
Last updated: 4/10/2014

How can I find a genetics professional in my area?

You may wish to discuss your concerns with a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can help you find a genetics professional in your community:

The following online resources can help you find a genetics professional in your community:  

Last updated: 4/10/2014

References
Other Names for this Disease
  • Corneal dystrophy Fuchs endothelial early-onset
  • Early-onset Fuchs endothelial corneal dystrophy
  • FECD1
  • Fuchs endothelial corneal dystrophy 1
  • Fuchs' endothelial dystrophy type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.