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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

My child has fevr. She also has other medical problems, and I am trying to find out if they are linked together with this disease. Could you please tell me if there are other children with this and what there outcomes have been?

Our Answer

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

Are children with familial exudative vitreoretinopathy (FEVR) at an increased risk for medical conditions other than vision problems?

In most cases the eye/vision signs and symptoms are the only features of familial exudative vitreoretinopathy (FEVR). However, people with FEVR due to mutations in the LRP5 gene have been found to also have reduced bone mass.[1] The reduced bone mass increases the person's chance for bone fractures.[1]
Last updated: 9/23/2013

What is the typical long-term outlook for children with familial exudative vitreoretinopathy (FEVR)?

The severity of familial exudative vitreoretinopathy (FEVR) can vary significantly; even between affected members of the same family. It is estimated that 41% of people with FEVR have mild disease. People with mild disease often experience no symptoms and have normal vision. Children with severe FEVR typically experience signs and symptoms within the first ten years of life. Signs and symptoms may include reduced vision, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. Due to the wide variability of symptoms, we strongly encourage you to discuss your questions regarding your child's prognosis with her treating physician.[1] Early treatment can improve the long-term prognosis/outlook for children with FEVR. 
Last updated: 9/23/2013

What other conditions may be considered when signs and symptoms of familial exudative vitreoretinopathy are present?

A number of conditions have signs and symptoms which can be confused with familial exudative vitreoretinopathy (FEVR), including the following. Click on the condition names to learn more.

Incontientia pigmenti
Retinopathy of prematurity
Coats disease
Persistent fetal vasculature syndrome
Toxocariasis
Last updated: 9/23/2013

References