How to know if a genetic eye disorder may impact your family
When you look at photos of your little one, do you see a smile, dimples or eyes that look similar to yours? Many babies are born with both visible and invisible family traits passed on from mother and father. We often marvel at the intricacies of those inherited traits, but what if your child inherited a condition causing vision loss?
Familial Exudative Vitreoretinopathy, also known as FEVR, is a rare, genetic eye disorder leading to vision impairment. FEVR is a progressive disease characterized by abnormal development of retinal blood vessels. The National Center for Advancing Translational Sciences explains that FEVR reduces needed blood supply to the retina by preventing new vessel growth. These vessels create scar tissue that can cause retinal detachment over time. Each case of FEVR varies in severity, although most severe cases are usually detected in children under the age of 10.
What are common FEVR symptoms?
While the American Society of Retina Specialists reports vision loss as the most common FEVR symptom, crossed eyes (strabismus) and/or lazy eyes (amblyopia) can occur as abnormal retinal cells grow. In some cases, FEVR may have no symptoms at all, and a person who carries the disease will only be identified upon diagnosis of another family member. It is common for the severity of FEVR symptoms to vary widely among family members with the genetic mutation.
How is FEVR diagnosed?
Parents may be the first to spot FEVR via a white-eye glow called leukocoria, sometimes present in flash photos or direct light. If you notice this “glow,” please connect with your pediatrician. The most common method for diagnosing FEVR is wide-field fluorescein angiography, a photographic test using dye to examine the structure of the retinal blood vessels. Other familial exudative vitreoretinopathy testing methods include examining family members using the same fluorescein angiography, or genetic testing.
Since not all FEVR carriers show symptoms, a parent with no known vision problems still may be a carrier. Additionally, the frequency of family members who carry the disease is random, which is why genetic testing may be necessary to diagnose the condition.
How is FEVR treated?
Familial exudative vitreoretinopathy treatment varies upon the severity of the condition. Mild FEVR cases may not require treatment, while severe cases may necessitate laser therapy or surgery to stop further retinal detachment. Surgery may encourage retinal reattachment and improved vision.
Like FEVR, many glow-related diseases are treatable and even correctable if caught early. The best way to ensure your child’s vision health is to see a doctor with any concerns you may have. If you notice changes in your child’s vision or think that your newborn may be suffering with vision loss, schedule an appointment with an ophthalmologist.
Glow-related disease resources
Parents and family members interested in further information about FEVR can check out these sources:
Retina Today: Update on FEVR: Diagnosis, Management, and Treatment
FEVR.net: Home for FEVR resources and information
Genetic and Rare Disease Information Center: Familial exudative vitreoretinopathy
Meet a child impacted by this vision condition in our Glow Gallery by reading Stanley’s story. If your child is affected by familial exudative vitreoretinopathy, we would love to hear from you! Share your story by emailing info@knowtheglow.org