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What Is Familial Exudative Vitreoretinopathy? Causes, Symptoms
Familial exudative vitreoretinopathy (FEVR) is an eye disorder that can affect vision. It is caused by genetic mutations that impact the development of blood vessels in the retina. These abnormalities can lead to complications in the retina's ability to function properly. Understanding the genetic component of FEVR is crucial for early detection and management.
By recognizing the role of genetics in this condition, healthcare providers can provide personalized care to patients with FEVR. If you have a family history of eye problems or experience changes in your vision, consult with an eye specialist for evaluation.
What Are the Symptoms of Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) symptoms include poor vision, crossed eyes, and white or grayish patches in the retina. Patients may also experience retinal detachment, abnormal blood vessel growth, and reduced peripheral vision. Regular eye check-ups are crucial for early detection and management of FEVR to prevent vision loss.
- Blurry vision, where objects may appear out of focus or unclear, is a common symptom of Familial exudative vitreoretinopathy.
- Difficulty seeing in low light conditions, such as at night or in dimly lit environments, can be a sign of Familial exudative vitreoretinopathy.
- Seeing "floaters" or small dark spots that drift across your field of vision may indicate Familial exudative vitreoretinopathy.
- Sudden or gradual vision loss, especially in peripheral vision, could be a symptom of Familial exudative vitreoretinopathy.
- Struggling to see fine details or read small print, even with corrective lenses, may be a manifestation of Familial ex
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Get Second OpinionCauses of Familial Exudative Vitreoretinopathy
Mutations in genes such as FZD4, LRP5, and NDP have been linked to the condition, disrupting normal blood vessel formation and leading to abnormal growth and leakage in the retina. Early diagnosis and treatment are crucial in managing this inherited eye disorder.
- Familial exudative vitreoretinopathy can be caused by mutations in the FZD4 gene, which plays a role in the development of blood vessels in the eye.
- Mutations in the NDP gene have also been identified as a genetic cause of Familial exudative vitreoretinopathy, affecting the formation of retinal blood vessels.
- Abnormalities in the LRP5 gene can lead to Familial exudative vitreoretinopathy by disrupting the signaling pathways involved in eye development.
- In some cases, Familial exudative vitreoretinopathy may be inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene
Types of Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy (FEVR) is classified into different types based on the severity and inheritance pattern. These types include classic FEVR, atypical FEVR, and Norrie disease. Classic FEVR is the most common type and is inherited in an autosomal dominant pattern. Atypical FEVR may have different inheritance patterns, while Norrie disease is a more severe form that can cause progressive vision loss.
- Autosomal dominant inheritance pattern: This type of Familial exudative vitreoretinopathy (FEVR) is characterized by the condition being passed down from one affected parent to their child, with a 50% chance of inheritance. Autosomal recessive FEVR: In this form, both parents must carry a copy of the mutated gene for their child to develop the condition, resulting in a 25% chance of inheritance.
- X-linked FEVR: This type is caused by mutations in the NDP gene located on the X chromosome, leading to a more severe form of the disorder that primarily affects males.
Risk Factors
Risk factors for Familial exudative vitreoretinopathy include genetic mutations in genes such as FZD4, LRP5, TSPAN12, and NDP. Additionally, a family history of the condition increases the likelihood of developing FEVR. Premature birth, low birth weight, and exposure to certain medications in utero may also contribute to the risk of developing Familial exudative vitreoretinopathy.
- A family history of Familial exudative vitreoretinopathy increases the risk for developing the condition.
- Premature birth or low birth weight can be a risk factor for Familial exudative vitreoretinopathy.
- Certain genetic mutations, such as in the FZD4 or LRP5 genes, can predispose individuals to Familial exudative vitreoretinopathy.
- Exposure to environmental factors, like smoking or alcohol consumption during pregnancy, may increase the likelihood of developing Familial exudative vitreoretinopathy.
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Diagnosis of Familial Exudative Vitreoretinopathy
To diagnose Familial exudative vitreoretinopathy, your eye doctor will conduct a thorough eye examination, including a dilated eye exam and imaging tests like optical coherence tomography. Your family history will also be reviewed to see if this condition runs in your family. Genetic testing may be recommended to confirm the diagnosis. Early detection is crucial for effective management and preserving vision.
- Clinical examination: Family history, symptoms, and a detailed eye examination by an ophthalmologist can help diagnose Familial exudative vitreoretinopathy (FEVR).
- Fluorescein angiography: This imaging test involves injecting a special dye into a vein in the arm, which travels to the blood vessels in the retina to identify abnormalities in blood flow and leakage characteristic of FEVR.
- Optical coherence tomography (OCT): This non-invasive imaging test provides detailed cross-sectional images of the retina, helping to visualize any structural changes or abnormalities in the retinal layers associated with FEVR.
Treatment for Familial Exudative Vitreoretinopathy
Treatment options for Familial exudative vitreoretinopathy often involve managing symptoms and preserving vision. This may include regular eye exams, laser therapy, and surgical procedures like vitrectomy or retinal detachment repair. Your eye doctor will create a personalized treatment plan based on the severity of your condition. It's important to follow your doctor's recommendations for the best outcomes.
- Laser photocoagulation therapy may be used to treat abnormal blood vessels in the retina of patients with Familial exudative vitreoretinopathy (FEVR), helping to reduce the risk of complications such as retinal detachment and vision loss.
- Intravitreal anti-VEGF injections can be administered to inhibit the growth of abnormal blood vessels and reduce vascular leakage in the retina, providing a targeted approach to managing the progression of FEVR.
- Surgical interventions, such as vitrectomy, may be recommended in cases of advanced FEVR to remove scar tissue, membranes, or vitreous gel that may be causing traction on the retina, helping to improve visual outcomes.
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040-68334455Frequently Asked Questions
How can Familial exudative vitreoretinopathy be identified through its signs?
Signs of FEVR include poor vision, crossed eyes, abnormal eye movements, and detached retina. Consult an eye specialist for proper diagnosis.
What are the recommended do's and don'ts for managing Familial exudative vitreoretinopathy?
Do: Regular eye exams, genetic counseling, and timely intervention. Don't: Delay treatment, ignore symptoms, or self-medicate.
Are there any risks associated with untreated Familial exudative vitreoretinopathy?
Yes, untreated Familial exudative vitreoretinopathy can lead to vision loss, retinal detachment, and permanent eye damage. Early treatment is crucial.
How can Familial exudative vitreoretinopathy be treated and controlled?
Treatment includes laser therapy, surgery, and injections to manage complications. Regular eye exams are essential for monitoring progression.
Is Familial exudative vitreoretinopathy likely to come back after treatment?
Familial exudative vitreoretinopathy can recur, especially if genetic factors are involved. Regular eye exams are important for monitoring and early intervention.
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