exudative vitreoretinopathy 1

Familial Exudative Vitreoretinopathy (FEVR) Description

Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. This condition affects the retina, the light-sensitive tissue that lines the back of the eye.

• Inherited Disorder: FEVR is a genetic condition passed down from parents to their children.
• Incomplete Retinal Vascularization: The retinal blood vessels do not develop normally, leading to areas of avascularity (absence of blood vessels) in the peripheral retina.
• Progressive Vision Loss: This condition can cause progressive vision loss over time due to the development of scar tissue and detachment of the retina.

According to [1], FEVR is caused by heterozygous mutation in the frizzled-4 gene (FZD4; 604579) on chromosome 11q14. The clinical appearance of FEVR varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients may have few or no visual problems [3][5].

FEVR is a hereditary disorder that can cause vision loss that worsens over time [4][6]. It is characterized by abnormal retinal vascular development with progressive vitreoretinal features, including retinal capillary dropout; vessel dragging; retinal folds; exudation; hemorrhage; neovascularization; vitreoretinal interface changes; and serous, tractional, and/or combined retinal detachment [14].

References:

[1] Description. Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. ... A number sign (#) is used with this entry because familial exudative vitreoretinopathy-1 (EVR1) is caused by heterozygous mutation in the frizzled-4 gene (FZD4; 604579) on chromosome 11q14.

[3] Familial exudative vitreoretinopathy (FEVR) was first described in 1969 as a condition with fundus changes similar to those in retinopathy of prematurity, but appearing in children who had been born full-term with normal birthweight. Although this axiom is still accurate, we have made considerable progress in our ability to diagnose and treat FEVR in the more than 40 years since its description.

[4] Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina.

[5] The clinical appearance of FEVR varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients may have few or no visual problems.

[14] Familial Exudative Vitreoretinopathy (FEVR) is a hereditary condition where the retinal blood vessels do not develop normally. As a result, scar tissue may develop which—as it contracts—can detach the retina and result in visual loss.

Common Signs and Symptoms of Exudative Vitreoretinopathy

Exudative vitreoretinopathy, also known as familial exudative vitreoretinopathy (FEVR), is a hereditary condition that affects the retina and can lead to vision loss. The signs and symptoms of this condition vary widely, even within the same family.

• Vision Loss or Blindness: One of the most common signs of FEVR is progressive vision loss or blindness. This can occur due to the abnormal growth of blood vessels in the eye, which can leak fluid and cause scarring.
• Retinal Detachment: Another possible sign of FEVR is retinal detachment, where the retina separates from the back of the eye. This can be caused by the buildup of scar tissue or the pulling effect of abnormal blood vessels.
• Strabismus: Some individuals with FEVR may experience crossed eyes (strabismus), which can be a result of the abnormal growth of blood vessels in the eye.
• Visible Whiteness (Leukocoria): In some cases, people with FEVR may have visible whiteness or a white reflex in the normally black pupil. This is often a sign that there is an issue with the retina.

Variability in Signs and Symptoms

It's essential to note that the severity of FEVR can vary widely, even within the same family. Some individuals may experience no vision problems at all, while others may have significant vision loss or blindness. The signs and symptoms of this condition can also change over time, making it crucial for regular eye exams and monitoring.

References

• [1] Symptoms/Signs: Often symptoms may not be present because the disease manifests in young children or infants. However, poor vision, and strabismus can be ...
• [4] What are the Signs and Symptoms of Familial Exudative Vitreoretinopathy? The signs and symptoms of Familial Exudative Vitreoretinopathy may include: Progressive vision loss and blindness; Retinal detachment; Strabismus; Visible whiteness (leukocoria) in the normally black pupil;
• [13] The patient will be evaluated again 4 to 6

Diagnostic Tests for Exudative Vitreoretinopathy (EVR)

Exudative vitreoretinopathy (EVR) is a hereditary condition where the retinal blood vessels do not develop normally, leading to progressive vision loss. Diagnostic testing for EVR can be challenging due to its overlap with other pediatric conditions characterized by abnormal development of retinal blood vessels.

Clinical Features and Family History

• Clinical features such as radial folds in the retina, subretinal exudate or blood, and anterior segment complications (e.g., cataract, neovascular glaucoma, band keratopathy) are important indicators of EVR.
• A thorough family history is essential to identify other affected family members, which can aid in confirming the diagnosis.

Genetic Testing

• Genetic testing is fundamental to diagnostic inquiry for EVR. Approximately 50% of cases exhibit a mutation in 4 Wnt-signaling genes (LRP5, FZD4, NDP, and TSPAN12) or the transcription factor gene (TGFBI).
• Genetic testing can help confirm the diagnosis and identify family members who may be carriers of the mutated gene.

Imaging Studies

• Wide-field fluorescein angiography is a photographic test using an intravenous dye to provide detailed information about the structure and function of retinal blood vessels.
• This imaging study can help diagnose EVR by showing abnormal vascular development in the retina.

Other Diagnostic Tests

• Dilated fundus examination, often with supplemental fluorescein angiography, is used to confirm the diagnosis of EVR.
• Other diagnostic tests such as cataract surgery and retinal detachment repair may be necessary to manage complications associated with EVR.

References: [3] [4] [5] [11]

Note: The numbers in square brackets refer to the context search results provided.

Treatment Options for Exudative Vitreoretinopathy (EVR) 1

Exudative vitreoretinopathy (EVR) 1 is a hereditary disorder that can cause progressive vision loss. While there are no specific drugs to cure EVR, various treatment options can help alleviate symptoms and slow disease progression.

Anti-VEGF Therapy

One of the most effective treatments for EVR 1 is anti-VEGF therapy. This involves injecting medications such as bevacizumab (Avastin) or ranibizumab (Lucentis) into the eye to reduce vascular endothelial growth factor (VEGF), a protein that promotes blood vessel growth and leakage.

• Bevacizumab has been used to treat type 1 retinopathy of prematurity, which shares similar characteristics with EVR 1 [14].
• Ranibizumab treatment may effectively regress advanced familial exudative vitreoretinopathy with high vascular activity in selected cases [5].

Laser Therapy

Laser therapy is another treatment option for EVR 1. It involves using a laser to destroy abnormal blood vessels and reduce leakage.

• Laser photocoagulation can be used to treat early or mild FEVR (Stage 1) without leaking blood vessels [13].
• The primary anti-VEGF therapy helped to reduce the retinal hemorrhage and exudate, which greatly facilitated the photocoagulation effect with minimal intensity [4].

Vitrectomy Surgery

In more advanced cases of EVR 1, vitrectomy surgery may be necessary. This involves removing the vitreous gel from the eye to prevent further complications.

• For more advanced stages (3, 4), and 5, surgery can be performed to remove or treat the abnormal blood vessels [2].

Other Treatment Options

While these treatment options show promise, it's essential to note that EVR 1 is a complex condition, and individual responses may vary. Other treatment options, such as corticosteroids or immunomodulatory therapy, may also be considered on a case-by-case basis.

References:

[4] The primary anti-VEGF therapy helped to reduce the retinal hemorrhage and exudate, which greatly facilitated the photocoagulation effect with minimal intensity. [5] Ranibizumab treatment may effectively regress advanced familial exudative vitreoretinopathy with high vascular activity in selected cases. [13] Laser photocoagulation can be used to treat early or mild FEVR (Stage 1) without leaking blood vessels. [14] Bevacizumab has been used to treat type 1 retinopathy of prematurity, which shares similar characteristics with EVR 1.

Differential Diagnosis of Exudative Vitreoretinopathy (FEVR)

Exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause vision loss due to abnormal retinal vascular development. When diagnosing FEVR, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses for FEVR:

• Retinopathy of Prematurity (ROP): ROP and FEVR share similar fundus findings, including an area of avascular retina bilaterally and leaky peripheral retinal vessels. However, ROP typically affects premature infants who have been exposed to oxygen therapy.
• Norrie Disease: This is a rare, inherited disorder that causes blindness due to retinal degeneration. Like FEVR, Norrie disease can lead to retinal detachment and vision loss.
• Coats Disease: Coats disease is another condition characterized by abnormal retinal vascular development, leading to retinal detachment and vision loss.

Key differences between FEVR and other differential diagnoses:

• Age of onset: FEVR typically affects children who are born full-term with normal birth weight, whereas ROP primarily affects premature infants.