exudative vitreoretinopathy 7

Exudative vitreoretinopathy 7 (EVR7) is a disorder of the retinal vasculature characterized by the abrupt cessation of growth of peripheral capillaries, leading to an abnormal or incomplete vascularization of the retina [3]. This condition can cause vision loss and other complications such as retinal detachment and strabismus.

The signs and symptoms of EVR7 include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil [8].

EVR7 is caused by heterozygous mutation in the CTNNB1 gene on chromosome 3p22 [5]. This genetic mutation affects the development of the retinal blood vessels, leading to the characteristic features of EVR7.

It's worth noting that EVR7 is a rare disorder and more research is needed to fully understand its causes and effects. However, it is clear that this condition can have significant impacts on vision and overall health.

References: [3] - Exudative vitreoretinopathy 7 is a disorder of the retinal vasculature characterized by the abrupt cessation of growth of peripheral capillaries, leading to an abnormal or incomplete vascularization of the retina. [5] - EVR7 is caused by heterozygous mutation in the CTNNB1 gene on chromosome 3p22. [8] - The signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil.

Variability in Signs and Symptoms

The signs and symptoms of familial exudative vitreoretinopathy (FEVR) can vary widely, even within the same family [6]. In many affected individuals, the clinical manifestations range from no effects to minor anomalies, or even retinal detachment with blindness. This variability highlights the complexity of FEVR and the need for careful evaluation and monitoring.

Possible Signs and Symptoms

Some possible signs and symptoms of FEVR include:

• Vision loss or blindness
• Retinal detachment
• Strabismus (crossed eyes)
• Leukocoria (a visible whiteness in the normally black pupil)
• Peripheral vision disturbances
• Flashes or floaters

It's worth noting that the severity of FEVR can range from mild to severe, and some individuals may experience no symptoms at all [7]. Early recognition and careful evaluation are essential for managing this condition effectively.

References: [6] - The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. [7] - clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.

Exudative vitreoretinopathy, also known as familial exudative vitreoretinopathy (FEVR), is a hereditary disorder that affects the retina and can lead to vision loss. Diagnostic tests for FEVR are essential for accurate diagnosis and timely treatment.

Diagnostic Tests:

• Ophthalmic examination: A thorough eye exam by an ophthalmologist or optometrist is crucial in diagnosing FEVR. The presence of avascular peripheral retina, retinal ischemia, neovascularization, vascular dragging, radial retinal folds, and retinal exudates are key indicators of the condition [2].
• Wide-field fluorescein angiography: This imaging test is essential for identifying the disease in its earlier stages, enabling timely treatment. It helps visualize the abnormal retinal vasculature and can detect signs of neovascularization and ischemia [8][9].
• Genetic testing: Genetic testing can confirm the diagnosis by identifying mutations in genes such as FZD4, LRP5, and NDP [4]. This test is particularly useful for diagnostic confirmation and screening family members if the genetic defect is known.

Other Diagnostic Tools:

• Fundus examination: A dilated fundus exam can reveal signs of FEVR, including avascular peripheral retina and retinal exudates.
• Imaging services: Various imaging services such as MRI scans, CT scans, X-rays, ultrasounds & screening mammograms may be used to support diagnosis and treatment planning.

It's essential to note that a comprehensive diagnostic evaluation by an ophthalmologist or optometrist is necessary for accurate diagnosis and timely treatment of exudative vitreoretinopathy 7.

Treatment Options for Exudative Vitreoretinopathy (FEVR)

Exudative vitreoretinopathy (FEVR) is a rare and inherited eye disorder that can lead to vision loss. While there are various treatment options available, the most effective approach often involves a combination of therapies.

• Anti-VEGF Treatment: This is a common treatment for FEVR, particularly in cases where retinal neovascular activities are present [1]. Anti-VEGF medications work by reducing the excessive vascular endothelial growth factor (VEGF) drive that contributes to the disease's progression.
• Laser Therapy: In some cases, laser therapy may be used to treat FEVR, especially when there is a need to reduce retinal neovascularization or prevent further vision loss [3].
• Surgical Intervention: Surgical options, such as vitrectomy and scleral buckling, may be considered in more severe cases of FEVR, particularly when there are complications like retinal detachment [4].

It's essential to note that the treatment approach for FEVR can vary depending on the stage and severity of the disease. Early detection and prompt treatment are crucial in managing this condition effectively.

References: [1] Context 3 [2] Context 5 [3] Context 8 [4] Context 9

The differential diagnosis for Familial Exudative Vitreoretinopathy (FEVR) includes several other pediatric retinal diseases, such as:

• Retinopathy of Prematurity (ROP)
• Norrie disease
• Coats disease
• Persistent fetal vasculature

These conditions can present with similar fundus findings to FEVR, making differential diagnosis crucial for accurate diagnosis and treatment. [7][9]

In particular, ROP is a condition that affects premature infants and can cause retinal ischemia and neovascularization, similar to FEVR. However, FEVR typically presents in full-term children without any history of prematurity. [1][2]

Other conditions like Norrie disease and Coats disease also need to be ruled out through differential diagnosis, as they can present with similar symptoms such as retinal detachment and vision loss. [6][8]