Fuchs endothelial corneal dystrophy
* Not a rare disease
Other Names for this Disease
- Late hereditary endothelial dystrophy
- Endoepithelial corneal dystrophy
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Your QuestionI 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?
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Questions on this page
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 (which is the early-onset form of the disease), 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.
Last updated: 4/10/2014
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:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
Last updated: 4/10/2014
- Fuchs endothelial dystrophy. Genetics Home Reference. June 2011; http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy. Accessed 4/10/2014.