Familial Exudative Vitreoretinopathy (FEVR) is a rare, inherited disorder that affects the retina, the light-sensitive tissue lining the back of the eye. In a healthy eye, blood vessels grow to supply oxygen and nutrients to the entire retina. However, in individuals with FEVR, these blood vessels do not fully develop at the outer edges (periphery) of the retina. This lack of blood supply, known as ischemia, can lead to a cascade of vision-threatening complications.
Because the peripheral retina is starved of oxygen, the eye attempts to compensate by growing new, abnormal blood vessels. Unfortunately, these new vessels are fragile and prone to leaking fluid (exudate) or bleeding. Over time, this leakage and bleeding can cause scar tissue to form. As the scar tissue contracts, it can pull on the retina, leading to retinal folds, a dragged macula, or even a retinal detachment, which can cause severe vision loss or blindness.
The symptoms of FEVR vary widely, even among members of the same family. Some individuals may have mild, asymptomatic disease that is only detected during a dilated eye exam. Others may experience significant vision loss early in childhood. In severe cases, infants may present with a white pupil (leukocoria) or crossed eyes (strabismus).
FEVR is caused by genetic mutations that disrupt the Wnt signaling pathway, which is crucial for normal retinal blood vessel development. It can be inherited in several ways, including autosomal dominant, autosomal recessive, and X-linked patterns. Because of its hereditary nature, if one family member is diagnosed with FEVR, it is highly recommended that other family members undergo a comprehensive dilated eye examination, even if they have no symptoms.
Early detection is critical in managing FEVR. While there is no cure, treatments such as laser therapy can help prevent the abnormal blood vessels from causing further damage. If you or a family member have been diagnosed with FEVR, it is essential to consult with a pediatric ophthalmologist or a retina specialist to develop a personalized monitoring and treatment plan.