exudative vitreoretinopathy

Familial Exudative Vitreoretinopathy (FEVR): A Rare Hereditary Disorder

Familial exudative vitreoretinopathy, also known as FEVR, is a rare hereditary disorder that affects the retina and its blood vessels. It is characterized by abnormal or incomplete vascularization of the peripheral retina, leading to variable clinical manifestations.

Key Features:

• Hereditary condition: FEVR is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.
• Abnormal retinal angiogenesis: The retinal blood vessels do not develop normally, leading to incomplete or anomalous vascularization of the peripheral retina.
• Variable clinical manifestations: FEVR can cause vision loss that worsens over time, and its severity can vary greatly among affected individuals.

Causes and Risk Factors:

• Genetic mutation: The exact genetic mutation responsible for FEVR is not yet fully understood, but it is believed to involve multiple genes.
• Family history: Individuals with a family history of FEVR are at higher risk of developing the condition.

Symptoms and Diagnosis:

• Vision loss: FEVR can cause progressive vision loss due to retinal detachment or other complications.
• Retinal detachment: The retina may detach from the underlying tissue, leading to severe vision loss.
• Diagnosis: FEVR is typically diagnosed through a combination of clinical evaluation, family history, and imaging studies such as optical coherence tomography (OCT) and fluorescein angiography.

References:

• [1] Familial exudative vitreoretinopathy is a hereditary condition where the retinal blood vessels do not develop normally. [8]
• FEVR defines a group of inherited diseases with abnormal retinal angiogenesis leading to incomplete vascularization of the peripheral retina. [3]
• Familial Exudative Vitreoretinopathy (FEVR) is an inherited vitreoretinal disorder characterized by incomplete or anomalous vascularization of the peripheral retina. [6]

Common Signs and Symptoms of Exudative Vitreoretinopathy (FEVR)

Exudative Vitreoretinopathy (FEVR) is a hereditary disorder that can cause vision loss and blindness. The signs and symptoms of FEVR can vary in severity, but here are some common ones:

• Vision Loss: Vision loss is the most common symptom of FEVR, ranging from mild to severe [2]. In some cases, it may progress over time.
• Crossed Eyes (Strabismus): Crossed eyes or strabismus can occur due to the abnormal development of the retina and optic nerve [5].
• Lazy Eye (Amblyopia): Lazy eye or amblyopia is another possible symptom, where one eye does not develop properly, leading to vision loss in that eye [2].
• Peripheral Vision Disturbances: Many individuals with FEVR experience peripheral vision disturbances, such as flashes or floaters [3].
• Retinal Detachment: In severe cases, retinal detachment can occur, leading to blindness.
• Visible Whiteness (Leukocoria): A white reflection in the pupil can be a sign of FEVR.

Early Signs and Symptoms

In some cases, individuals with FEVR may not exhibit any symptoms at birth or early childhood. However, as they grow older, signs and symptoms may become apparent [5].

• Avascular Peripheral Retina: In full-term infants without supplemental oxygen use, avascular peripheral retina can be a sign of FEVR [8].
• Retinal Vessel Abnormalities: Abnormal retinal vessels can also indicate the presence of FEVR.

Important Considerations

It's essential to note that the severity and progression of FEVR symptoms can vary significantly from person to person. Regular eye exams are crucial for early detection and management of this condition.

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Exudative vitreoretinopathy (EVR) is a complex eye condition that requires accurate diagnosis to determine the best course of treatment. Here are some diagnostic tests used to diagnose EVR:

• Fluorescein Angiography (FA): This is considered the gold standard for diagnosing EVR, especially in pediatric patients [1]. FA helps visualize the blood vessels in the retina and can detect abnormalities associated with EVR.
• Retinal Photography: A comprehensive eye examination, including retinal photography, can help identify signs of EVR, such as avascular areas or abnormal vessel formation [5].
• Genetic Testing: Genetic testing for FZD4, NDP, TSPAN12, and LRP5 genes can confirm the diagnosis in approximately half of patients with EVR [3]. This test is particularly useful when a family history of EVR exists.
• Ophthalmic Ultrasound: Ophthalmic ultrasound can help evaluate the vitreous and retina for signs of EVR, such as retinal detachment or vitreoretinal traction [6].
• Optical Coherence Tomography (OCT): OCT is a non-invasive imaging test that can provide detailed images of the retina and detect abnormalities associated with EVR [7].

These diagnostic tests are essential in accurately diagnosing exudative vitreoretinopathy, allowing for timely treatment and management of this complex eye condition.

References:

[1] Context result 4 [3] Context result 3 [5] Context result 5 [6] Context result 6 [7] Context result 7

Treatment Options for Exudative Vitreoretinopathy (EVR)

Exudative vitreoretinopathy (EVR) is a rare hereditary disorder characterized by abnormal or incomplete vascularization of the peripheral retina, leading to variable clinical manifestations. While there are no specific drugs for curing EVR, various treatment options can help alleviate symptoms and improve visual acuity.

Anti-VEGF Therapy

One of the primary treatment approaches for EVR is anti-vascular endothelial growth factor (anti-VEGF) therapy. This involves injecting medications such as Macugen, Avastin, or Lucentis into the eye to reduce abnormal "leakiness" of blood vessels and exudation [4]. Anti-VEGF drugs can help facilitate photocoagulation effects with minimal intensity [1].

Noregen

A more recent development in EVR treatment is Noregen, a drug that has been designated by the FDA for the treatment of Familial Exudative Vitreoretinopathy (FEVR). When injected into the eye, Noregen may regenerate retinal blood vessels and neurons, restoring normal retinal function and counteracting vision loss [5].

Laser Therapy and Surgery

In cases where EVR is severe or has progressed to more advanced stages, treatment options such as laser therapy and vitrectomy surgery can be employed. These procedures can help alleviate symptoms and improve visual acuity in a significant proportion of patients (63-96%) [9]. However, roughly one-third of patients may require more than one surgery.

Current Status

Currently, there are no specific drugs for curing EVR, but treatment options such as laser therapy and vitrectomy surgery can help alleviate symptoms. Prompt retinal treatment is essential to prevent further vision loss and improve outcomes [9].

References:

[1] YZ Lu · 2018 · Cited by 10 — The primary anti-VEGF therapy helped to reduce the retinal hemorrhage and exudate, which greatly facilitated the photocoagulation effect with minimal intensity.

[4] 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.

[5] Jan 27, 2022 — When injected into the eye, Noregen™ may regenerate retinal blood vessels and neurons restoring normal retinal function and counteracting vision loss.

[9] Aug 31, 2023 — Visual acuity is stabilized or improved in 63% to 96% of cases, and roughly one-third require more than 1 surgery. The final take-home point: Prompt retinal treatment is essential to prevent further vision loss and improve outcomes.

Differential Diagnosis of Exudative Vitreoretinopathy (FEVR)

Exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause vision loss due to the accumulation of fluid in the retina. When diagnosing FEVR, it's essential to rule out other conditions with similar findings. Here are some key differential diagnoses:

• Retinopathy of Prematurity (ROP): This condition primarily affects premature infants and can be ruled out based