National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Familial exudative vitreoretinopathy

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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.
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

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  1. Familial exudative vitreoretinopathy. Genetics Home Reference. February 2009; http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy. Accessed 3/3/2011.