Understanding Familial Exudative Vitreoretinopathy

(Posted on Monday, December 25, 2023)

This story is part of a series on the current progression in Regenerative Medicine. This piece is part of a series dedicated to the eye and improvements in restoring vision. 

In 1999, I defined regenerative medicine as the collection of interventions that restore tissues and organs damaged by disease, injured by trauma, or worn by time to normal function. I include a full spectrum of chemical, gene, and protein-based medicines, cell-based therapies, and biomechanical interventions that achieve that goal.

Familial exudative vitreoretinopathy (FEVR) is a rare genetic disorder that affects the development of the blood vessels in the retina. This inherited disorder causes the blood vessels in the retina to develop abnormally, leading to abnormal connections between the arteries and veins in the eye. This can cause the leaking of blood and other fluids into the retina, resulting in vision problems such as blurry or distorted vision, partial or complete vision loss, and even blindness. 

What is FEVR?

Familial exudative vitreoretinopathy (FEVR) is an inherited disorder that affects the development of the blood vessels in the retina. Specifically, the blood vessels in the retina fail to develop normally, causing abnormal connections between the arteries and veins. This can result in the leakage of blood and other fluids into the retina, leading to vision problems such as blurry or distorted vision, partial or complete vision loss, and even blindness.

FEVR is a condition that can affect people in different ways. Some may experience mild vision issues, while others may have more severe symptoms. The symptoms can also vary between the eyes and even among family members with the condition. It is possible for an illness not to affect vision in some cases. However, those who have symptomatic FEVR generally encounter issues with their peripheral vision, experience flashes, or see floaters at a young age. FEVR may also be linked to other health problems, such as hearing loss or skeletal abnormalities.

A Novel Study on FEVR

The research paper published in the Molecular Genetics and Metabolism Reports journal provides valuable insights into the role of the Endoplasmic Reticulum (ER) membrane protein complex (EMC) in regulating retinal angiogenesis. The study highlights how EMC malfunction can lead to familial exudative vitreoretinopathy (FEVR). 

This study’s findings are essential for diagnosing, managing, and treating FEVR and retinal vascular diseases. The protein EMC1 is necessary for retinal vascularization and is critical in the Wnt/β-catenin signaling pathway. Identifying EMC1 could lead to new drug targets and treatments. The study also used WES analysis to find genetic variants in the EMC1 gene, which could help in genetic counseling and selecting patients for gene replacement therapy.

The study sheds light on the molecular basis of retinal angiogenesis and the relationship between EMC proteins and signaling pathways in retinal development. Finding new candidate genes through WES analysis could help identify pathogenic genes for other genetic diseases, improving our understanding of disease mechanisms and enabling targeted therapies.

Current Treatment Strategies

While there is no cure for FEVR, early diagnosis and treatment can help manage the symptoms and prevent further vision loss. Familial exudative vitreoretinopathy (FEVR) is treated according to the severity of the eye condition. 

If the case is mild, the doctor may not suggest any treatment and simply observe the patient. In moderate to severe cases, the goal is to prevent the progression of neovascularization, which can cause hemorrhage and exudation. Laser photocoagulation or cryotherapy may be used to manage neovascularization. At the same time, anti-vascular endothelial growth factor (VEGF) therapy may reduce hemorrhage and exudation.

If there is ongoing fibrovascular proliferation, surgery may be needed to address potential complications like retinal detachments. The surgery may involve the removal of the lens or vitrectomy, which is the removal of the vitreous gel in the eye. Prompt intervention is essential to prevent complications like vitreous hemorrhage, retinal detachment, and neovascular glaucoma.

Timely diagnosis and appropriate management of FEVR are essential to prevent complications and preserve vision. Although there is no definitive treatment, a personalized approach based on the patient’s specific eye condition and stage can provide the best outcome.

Putting It All Together

Familial exudative vitreoretinopathy (FEVR) is a rare genetic disorder that affects the development of the blood vessels in the retina. This inherited disorder can cause vision problems such as blurry or distorted vision, partial or complete vision loss, and even blindness. While there is no cure for FEVR, early diagnosis and treatment can help manage the symptoms and prevent further vision loss.

The current treatment strategies for FEVR involve laser photocoagulation or cryotherapy to manage neovascularization and anti-vascular endothelial growth factor (VEGF) therapy to reduce hemorrhage and exudation. Surgery may be necessary to address potential complications like retinal detachments, vitreous hemorrhage, and neovascular glaucoma.

Further research on the molecular basis of retinal angiogenesis can help develop targeted therapies and improve patient outcomes. Comprehensive eye exams, genetic testing, counseling, and timely interventions can make a significant impact on the management of FEVR.

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