Fuchs endothelial corneal dystrophy
* Not a rare disease
Other Names for this Disease
- Endoepithelial corneal dystrophy
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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
- Fuchs endothelial dystrophy. Genetics Home Reference. June 2011; http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy. Accessed 4/10/2014.