Familial Exudative Vitreoretinopathy (FEVR) is a hereditary condition that affects retinal health. Early diagnosis and monitoring are crucial for preserving vision.
Familial exudative vitreoretinopathy (FEVR) is a hereditary eye condition affecting the retina, the light-sensitive tissue at the back of the eye that plays a crucial role in vision. It occurs when the blood vessels in the retina do not develop normally, leading to potential complications such as abnormal vessel leakage and retinal detachment. Recognizing and monitoring this condition early on is essential for preserving vision and ensuring the best outcomes.
FEVR is a genetic disorder in which the normal development of retinal blood vessels is interrupted. This interruption can lead to an array of retinal issues, beginning with the peripheral retina where blood supply may be insufficient. As a consequence, areas of the retina may be subject to oxygen deprivation, causing structural changes that might eventually result in vision loss.
At its core, FEVR is the result of mutations impacting the genes that govern the growth and patterning of retinal vessels. These genetic abnormalities, which involve elements of the Wnt signaling pathway and include genes such as FZD4, LRP5, NDP, and TSPAN12, disturb the intricate process of blood vessel formation. The degree to which the condition manifests can vary greatly among individuals, even within the same family, making it a uniquely challenging condition to manage.
The variability in expression means that some carriers of the FEVR gene mutation may show little to no visual symptoms, while others progress to more severe stages characterized by significant retinal damage and vision impairment. It is this wide spectrum that often necessitates careful, comprehensive screenings for those with a family history of the disorder.
The retina relies on a meticulously organized network of blood vessels to provide the oxygen and nutrients necessary for healthy function. In FEVR, this developmental process is disrupted. As a result, the peripheral blood vessels may appear “pruned” or underdeveloped, leaving regions of the retina vulnerable to ischemia (lack of proper blood flow).
This compromised blood supply can lead to several cascading problems. One of the hallmarks of FEVR is the formation of abnormal new blood vessels—a process known as neovascularization. These vessels are prone to leaking, which increases the risk of exudation, a situation where fluids and lipoproteins escape from these vessels and collect under the retina. Over time, if these leaks are significant, they can cause inflammation and contribute to retinal scarring.
As scar tissue forms and contracts, it may create traction on the retina, leading to retinal folds or even detachments. The progression from initial blood vessel abnormalities to retinal detachment is often classified in stages, with early stages showing subtle vessel abnormalities and later stages potentially resulting in severe vision loss due to detachment.
If you or a family member may have signs of FEVR, contact us today to find a top optometrist near you for a comprehensive examination.
The symptoms of FEVR can vary from person to person, and even among family members with the condition, they might differ in severity. While many carriers are asymptomatic, it is important to be aware of potential signs that could indicate the condition’s progression.
Some of the key symptoms include:
In addition to these, individuals may experience blurry or distorted vision when the retina begins to wrinkle or fold due to scarring. Here’s the thing: while some patients never notice any changes, staying attentive to symptoms and obtaining regular eye exams remains a vital part of managing FEVR.
The progression of FEVR can be described in stages, which helps our eye doctors in diagnosing its severity and planning appropriate management strategies. Understanding these stages can give patients and caregivers insight into what to expect and why regular monitoring is essential.
Key stages include:
Recognizing the stage of FEVR is crucial for determining whether immediate treatment is needed or if observation might suffice in milder cases.
If you or a family member may have signs of FEVR, contact us today to find a top optometrist near you for a comprehensive examination.
Familial Exudative Vitreoretinopathy (FEVR) affects retinal health and can lead to vision loss. Regular monitoring is key to managing this genetic condition.
