exudative vitreoretinopathy 6

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.

This condition affects the development of blood vessels in the retina, which can lead to various complications such as neovascularization, vascular dragging, radial retinal folds, and retinal exudates.

The symptoms of FEVR can vary significantly among individuals, even within the same family, and can range from mild to severe. In some cases, it may not cause any noticeable effects, while in others, it can lead to significant vision loss or even blindness.

It's worth noting that FEVR is a rare condition, and its exact prevalence is unknown. However, it is considered a serious eye disorder that requires prompt medical attention if symptoms are present.

Exudative vitreoretinopathy (EVR) 6, also known as familial exudative vitreoretinopathy (FEVR), is a rare hereditary disorder that affects the retina. The signs and symptoms of EVR 6 can vary widely, even within the same family.

Common Signs and Symptoms:

• Vision loss or blindness [4]
• Retinal detachment [1][5][10]
• Crossed eyes (strabismus) [5]
• Visible whiteness (leukocoria) in the normally black pupil [5]

Other Possible Symptoms:

• High myopia [6]
• Anisometropia amblyopia [6]
• Epiretinal membrane [6]
• Traction retinal detachment [6]
• Retinal dragging [10]

Variability of Symptoms: The severity and progression of EVR 6 can vary widely, even within the same family. Some individuals may experience no visual symptoms at all, while others may have severe vision loss or blindness.

It's essential to note that early detection and monitoring by an eye care professional are crucial in managing EVR 6 and preventing further complications.

References: [1] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [10] Context result 10

Exudative vitreoretinopathy (EVR) 6, also known as familial exudative vitreoretinopathy (FEVR), is a hereditary disorder that can cause vision loss. Diagnostic tests for EVR 6 are crucial in confirming the diagnosis and monitoring the progression of the disease.

Diagnostic Tests:

• Wide-field fluorescein angiography: This photographic test using an intravenous dye provides detailed information about the structure and function of retinal vessels, making it a gold standard for diagnosing FEVR (1). It is particularly useful in pediatric patients who may require examination and imaging under anesthesia (6).
• Genetic testing: Testing for genes such as FZD4, NDP, TSPAN12, and LRP5 can confirm the diagnosis in approximately half of patients with FEVR (4). A 24-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion or diagnosis of vitreoretinopathy (10).
• Ophthalmic examination: A thorough ophthalmic examination, including gestational age and birth weight history, can help identify the presence of an avascular retina, which is a characteristic feature of FEVR (8).

Additional Diagnostic Tools:

• Retinal photography
• Retinal angiography
• Ophthalmic ultrasound
• Optical coherence tomography
• Electroretinogram/Visual Evoked Potential (ERG/VEP)

These diagnostic tests can help healthcare professionals confirm the diagnosis, monitor disease progression, and develop an effective treatment plan for patients with exudative vitreoretinopathy 6.

References: [1] [2] [3] [4] [5] [6] [7] [8] [9] [10]

Treatment Options for Exudative Vitreoretinopathy

Exudative vitreoretinopathy (FEVR) is a rare hereditary condition that affects the retina, leading to vision loss. While there is no cure for FEVR, various treatment options are available to manage the symptoms and slow down disease progression.

Anti-VEGF Therapy

One of the most effective treatments for FEVR is anti-VEGF (vascular endothelial growth factor) therapy. This involves injecting medications such as Macugen, Avastin, or Lucentis into the eye to reduce abnormal blood vessel growth and leakage. Anti-VEGF drugs have been shown to improve vision and slow down disease progression in patients with FEVR [5][6].

Other Treatment Options

In addition to anti-VEGF therapy, other treatment options for FEVR include:

• Laser photocoagulation: This involves using a laser to destroy abnormal blood vessels and reduce leakage.
• Topical nonsteroidal anti-inflammatory drugs (NSAIDs): These medications can help reduce inflammation and alleviate symptoms in mild cases of FEVR [11].
• Surgery: In severe cases, surgery may be necessary to repair retinal detachment or other complications.

Importance of Early Treatment

Early treatment is crucial for managing FEVR effectively. Studies have shown that prompt intervention with anti-VEGF therapy can improve vision and slow down disease progression in patients with FEVR [3][9].

References:

[5] Anti-VEGF drugs (Macugen initially, and more recently Avastin, Lucentis) have been used to reduce the abnormal “leakiness” of blood vessles in eyes with FEVR. [6] When injected into the eye, Noregen™ may regenerate retinal blood vessels and neurons restoring normal retinal function and counteracting vision loss. [11] LAPPEL may respond to treatment with topical nonsteroidal anti-inflammatory drugs. In stage 2 or higher disease (in the presence of retinal neovascularization), targeted laser photocoagulation to reduce leakage and improve vision.

Differential Diagnoses for Exudative Vitreoretinopathy

Exudative vitreoretinopathy (FEVR) can be challenging to diagnose, as it shares similar characteristics with other retinal diseases. The following conditions are considered differential diagnoses:

• Retinopathy of Prematurity (ROP): This condition is a leading cause of blindness in premature infants and can be ruled out based on gestational age.
• Norrie Disease: A rare genetic disorder that affects the retina and can lead to vision loss.
• Coats Disease: A rare eye disorder characterized by abnormal blood vessel growth in the retina, leading to retinal detachment and vision loss.
• Persistent Fetal Vasculature (PFV): A congenital condition where abnormal blood vessels persist in the retina after birth.
• Toxocara Canis: A parasitic infection that can cause retinal damage and vision loss.

These conditions require careful differentiation from FEVR to ensure accurate diagnosis and treatment. [6][8]