exudative vitreoretinopathy 3

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 growth and development of blood vessels in the retina, leading to various degrees of retinal ischemia.

Key Features:

• Incomplete or anomalous vascularization of the peripheral retina
• Avascular peripheral retina leads to various degrees of retinal ischemia
• Can cause neovascularization, vascular dragging, radial retinal folds, and retinal exudates

FEVR is a rare hereditary vitreoretinal disorder that can lead to significant visual impairment. The clinical appearance of FEVR varies considerably, even within families, with severely affected patients often registered as blind during infancy.

References:

• [3] Description. Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature.
• [11] Familial exudative vitreoretinop­athy (FEVR) is an inherited vitreoretinal disorder charac­terized by incomplete or anomalous vascularization of the peripheral retina.
• [14] Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature.

Common Signs and Symptoms of Familial Exudative Vitreoretinopathy (FEVR)

Familial Exudative Vitreoretinopathy (FEVR) is a rare hereditary condition that affects the retina, leading to abnormal or incomplete vascularization. The signs and symptoms of FEVR can vary widely, even within the same family.

• Vision Loss or Blindness: One of the most common symptoms of FEVR is progressive vision loss or blindness [3][10].
• Retinal Detachment: Retinal detachment is another possible symptom, where the retina separates from the underlying tissue [2][5][12].
• Strabismus: Strabismus, also known as crossed eyes, can be a sign of FEVR [4][5][12].
• Visible Whiteness (Leukocoria): A white or cloudy appearance in the normally black pupil can indicate FEVR [4][12].

It's essential to note that the severity of FEVR can vary widely, even within the same family. Some individuals may not experience any symptoms at all, while others may have more severe manifestations.

References: [1] Not applicable [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [10] Context result 10 [12] Context result 12

Diagnostic Tests for Exudative Vitreoretinopathy

Exudative vitreoretinopathy (FEVR) can be diagnosed through a combination of clinical evaluation, imaging studies, and genetic testing. Here are some diagnostic tests that may be used to diagnose FEVR:

• Widefield Angiography: This is a non-invasive imaging test that uses a fluorescent dye to visualize the blood vessels in the retina. It can help identify abnormal vascular development and neovascularization (1).
• Genetic Testing: Genetic testing can confirm the diagnosis of FEVR by identifying mutations in genes such as FZD4, NDP, TSPAN12, and LRP5 (9). This test is particularly useful for confirming a suspected diagnosis or for family members who may be at risk.
• Fluorescein Angiography: This imaging test uses a fluorescent dye to visualize the blood vessels in the retina. It can help identify abnormal vascular development and neovascularization (13).
• Clinical Evaluation: A thorough clinical evaluation by an ophthalmologist or retinal specialist is essential for diagnosing FEVR. This includes a detailed medical history, visual acuity testing, and a comprehensive eye examination.

References:

(1) - Context 2 (9) - Context 9 (13) - Context 13

Treatment Options for Exudative Vitreoretinopathy

Exudative vitreoretinopathy (EVR) is a condition characterized by the accumulation of fluid in the subretinal space, leading to retinal detachment. While there are various treatment options available, drug therapy has emerged as a promising approach.

• Anti-VEGF Therapy: Studies have shown that anti-vascular endothelial growth factor (anti-VEGF) therapy may provide a valuable adjunctive treatment for EVR. In one study, three children with persistent vascular activity and retinal detachment showed significant improvement after receiving anti-VEGF injections [7].
• Noregen: A recent development is the FDA designation of Noregen for the treatment of familial exudative vitreoretinopathy (FEVR), a hereditary disorder that can cause vision loss. While specific details about Noregen's mechanism and efficacy are not provided, its designation suggests potential as a therapeutic option [3].
• IVR Injections: Intravitreal injections of various medications have been used to treat EVR, with some studies reporting positive outcomes. For example, one study found that an average of 1.3 IVR injections per eye were given to patients with FEVR, resulting in improved fundus features [12].

It's essential to note that treatment approaches may vary depending on the stage and severity of the condition. Early or mild EVR without leaking blood vessels is generally managed by observation without treatment. However, more advanced cases may require surgical intervention or other therapeutic approaches.

References: [3] Caeregen Therapeutics announces FDA designation for Noregen in treating FEVR. [7] Rapid Improvement in Lipid Maculopathy Following Faricimab Therapy in Recalcitrant Familial Exudative Vitreoretinopathy. [12] Treatment, for Stage 3 to 5 familial exudative vitreoretinopathy with active fibrovascular proliferation and prominent subretinal exudation.

Based on the context provided, it seems that you're looking for information on the differential diagnosis of Familial Exudative Vitreoretinopathy (FEVR).

From what I've gathered from the search results, here are some conditions that need to be ruled out or considered in the differential diagnosis of FEVR:

1. Retinopathy of Prematurity (ROP): This is a leading cause of blindness in premature infants and can often be distinguished from FEVR based on gestational age.
2. Norrie Disease: A rare, inherited condition that affects the retina and can lead to vision loss.
3. Coats Disease: A rare eye disorder characterized by abnormal blood vessel growth in the retina, leading to retinal detachment and vision loss.
4. Retinopathy of Prematurity (ROP): Again, this is a significant differential diagnosis for FEVR, especially in premature infants.

These conditions can be distinguished from FEVR based on various factors such as age of onset, clinical presentation, and genetic testing.

Would you like me to elaborate on any of these points or provide more information?