exudative vitreoretinopathy 5

Familial Exudative Vitreoretinopathy (FEVR) Description

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. This condition affects the development of retinal blood vessels, resulting in their incomplete formation and potentially leading to vision loss.

Key Features:

• Rare hereditary vitreoretinal disorder
• Abnormal or incomplete vascularization of the peripheral retina
• Variable clinical manifestations
• Can lead to vision loss

[5][6][8]

Signs and Symptoms of Exudative Vitreoretinopathy

Exudative vitreoretinopathy (EVR) is a rare hereditary disorder that affects the development of the blood vessels in the retina. The signs and symptoms of EVR can vary widely, even within the same family.

• Vision Loss or Blindness: This is one of the most common symptoms of EVR, ranging from mild to severe vision loss.
• Retinal Detachment: In some cases, the retinal detachment can lead to blindness if left untreated.
• Crossed Eyes (Strabismus): Strabismus can occur due to the abnormal development of the blood vessels in the retina.
• Visible Whiteness (Leukocoria) in the Normally Black Pupil: This is a sign that can be observed in some cases of EVR.

The severity of EVR varies widely, even within the same family. Some people may not experience any vision problems at all, while others may have severe symptoms. It's essential to seek medical attention if you or your child are experiencing any of these symptoms.

References: * [5] Symptoms. The signs and symptoms of FEVR include vision loss or blindness, retinal detachment, crossed eyes (strabismus) and visible whiteness (leukocoria) in the normally black pupil. * [15] 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;

Diagnostic Testing for Exudative Vitreoretinopathy

Exudative vitreoretinopathy (EVR) is a hereditary condition where the retinal blood vessels do not develop normally. Diagnostic testing for EVR may be challenging due to the overlap in findings with other pediatric conditions characterized by abnormal development of retinal blood vessels.

• Retinal Photography: This is a non-invasive imaging test that uses a specialized camera to take pictures of the retina. It can help identify abnormalities such as retinal exudates, vascular dragging, and radial retinal folds.
• Retinal Angiography: This test uses a special dye to highlight the blood vessels in the retina. It can help diagnose EVR by showing abnormal or incomplete vascularization of the peripheral retina.
• Ophthalmic Ultrasound: This non-invasive imaging test uses high-frequency sound waves to create images of the eye and surrounding tissues. It can help identify retinal detachment, vitreous hemorrhage, and other complications associated with EVR.
• Optical Coherence Tomography (OCT): This advanced imaging test uses low-coherence interferometry to produce high-resolution images of the retina. It can help diagnose EVR by showing abnormal retinal thickness, exudates, and vascular changes.

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 (TGFBR1). A 24-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion/diagnosis of vitreoretinopathy.

Clinical Trials: Clinical trials determine if a new test or treatment for EVR is effective and safe by comparing groups receiving different tests/treatments. They can provide valuable information on the diagnosis, treatment, and management of EVR.

References: [5] Diagnostic Testing: Diagnosis of FEVR may be challenging due to the overlap in findings with other pediatric conditions characterized by abnormal development of retinal blood vessels. [6] Genetic testing is fundamental to diagnostic inquiry, in which approximately 50% of cases exhibit a mutation in 4 Wnt-signaling genes (LRP5, FZD4, NDP, and TSPAN12) or the transcription factor gene (TGFBR1). [9] A 24-gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion / diagnosis of vitreoretinopathy. [11] Diagnosis of FEVR may be challenging due to the overlap in findings with other pediatric conditions characterized by abnormal development of retinal blood vessels. [12] Diagnostic teams for Familial exudative vitreoretinopathy may include: Genetics . Neurology . Ophthalmology . Rare Disease Experts . [13] Clinical features, family history, and genetic testing aid in confirming the diagnosis of FEVR.

Familial Exudative Vitreoretinopathy (FEVR): A Complex Retinal Condition

Familial exudative vitreoretinopathy (FEVR) is a rare and complex retinal condition that can lead to severe vision loss if left untreated. It is characterized by the growth of abnormal blood vessels in the retina, which can cause bleeding, scarring, and detachment of the retina.

Causes and Symptoms

FEVR is caused by genetic mutations that affect the development of blood vessels in the retina. The symptoms of FEVR can vary depending on the severity of the condition, but may include:

• Blurred vision
• Floaters or flashes of light
• Eye pain or redness
• Retinal detachment

Treatment and Management

The treatment and management of FEVR depend on the severity of the condition. In mild cases, no treatment may be necessary, and the patient can simply be monitored for any changes in their symptoms.

However, in more severe cases, treatment may involve:

• Laser photoco

Differential Diagnosis of Exudative Vitreoretinopathy

Exudative vitreoretinopathy (EVR) is a rare and inherited retinal disease that can be challenging to diagnose. The differential diagnosis for EVR includes several other pediatric vitreoretinopathies, which are conditions that affect the retina and vitreous in children.

Conditions to Consider:

• Retinopathy of Prematurity (ROP): This condition is similar to EVR in terms of its fundus findings, but it typically affects premature infants. ROP can be differentiated from EVR by a history of prematurity.
• Coats Disease: This is another rare retinal disease that can cause vision loss and blindness. It is characterized by abnormal blood vessels growing on the retina.
• Norrie Disease: This is a rare genetic disorder that affects the eyes, brain, and other parts of the body. It can cause vision loss and blindness due to retinal degeneration.

Other Conditions:

• Capillary Hemangioma
• Choroidal Melanoma
• Ciliary Body Melanoma
• Exudative (Wet) Age-Related Macular Degeneration (AMD)

These conditions can be considered in the differential diagnosis of exudative vitreoretinopathy, and a thorough evaluation by an ophthalmologist is necessary to determine the correct diagnosis.

References: [6] Aug 5, 2015 — The differential diagnosis includes other pediatric vitreoretinopathies such as Norrie disease, retinopathy of prematurity, and Coats' disease. [9] Differential diagnosis: Retinopathy of prematurity · Coats disease · Norrie disease · Persistent fetal vasculature · Toxocara canis; Incontinentia pigmenti ...