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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial exudative vitreoretinopathy


Other Names for this Disease

  • Criswick-Schepens syndrome
  • Exudative vitreoretinopathy, familial
  • FEVR
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Your Question

We have a young child who was diagnosed with familial exudative vitreoretinopathy but there is no history of anything even closely similar in either side of our son’s genetic background going back three generations. So as you might expect, my wife and I are wondering where it came from, what triggered it and how will this impact his lineage.

Our Answer

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

How is familial exudative vitreoretinopathy inherited?

FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.[1]
Last updated: 2/7/2014

References
Other Names for this Disease
  • Criswick-Schepens syndrome
  • Exudative vitreoretinopathy, familial
  • FEVR
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.