Familial exudative vitreoretinopathy

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.

Last updated on 05-01-20

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

Last updated on 05-01-20

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. The reduced bone mass increases the person's chance for bone fractures.

Last updated on 05-01-20

What strategies can be used to help a child with familial exudative vitreoretinopathy in the classroom?

There are no strategies specific to this condition. However, the American Foundation for the Blind has numerous resources for teachers with students with visual impairments. You can click on the following links to view these Web pages:

Last updated on 05-01-20

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. Early treatment can improve the long-term prognosis/outlook for children with FEVR.

Last updated on 05-01-20

How might familial exudative vitreoretinopathy be treated?

Affected individuals with abnormal blood vessel formation in their retina can be treated with laser therapy. Surgery may also be necessary to correct retinal detachment.

Last updated on 05-01-20

In-Depth Information

Familial exudative vitreoretinopathy (FEVR)

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the links below to view articles on the autosomal dominant and the X-linked form of familial exudative vitreoretinopathy.
Autosomal Dominant FEVR
X-Linked FEVR

Last updated on 04-27-20

Name: Prevent Blindness America 211 West Wacker Drive, Suite 1700
Chicago, IL, 60606 , United States
Toll Free: 800-331-2020 Email: info@preventblindness.org Url: http://www.preventblindness.org/
Name: National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400
Rockville, MD, 20852, United States
Phone: 240-221-2905 Fax : 240-221-0370 Email: jamesj@eyeresearch.org Url: http://www.eyeresearch.org/
Name: Vision of Children Foundation (VOC) 12671 High Bluff Drive, Suite 300
San Diego, CA, 92130 , United States
Phone: 858-799-0810 Fax : 858-794-2348 Email: cdenofrio@visionofchildren.org Url: http://www.visionofchildren.org
Name: American Foundation for the Blind 1401 South Clark Street Suite 730
Arlington, VA, 22202, United States
Phone: 212-502-7600 Toll Free: 800-232-5463 Fax : 888-545-8331 Email: http://www.afb.org/sendMail.asp Url: http://www.afb.org/

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