Summary about Disease
Familial exudative vitreoretinopathy (FEVR) is a rare, inherited disorder that affects the development of blood vessels in the retina, the light-sensitive tissue at the back of the eye. It can lead to a range of vision problems, from mild to severe, and in some cases, blindness. The severity and progression of FEVR can vary significantly among affected individuals, even within the same family.
Symptoms
Symptoms of FEVR can vary widely depending on the severity of the condition. Some individuals may have no noticeable symptoms, while others experience significant vision impairment. Common symptoms include:
Decreased vision
Strabismus (misaligned eyes)
Leukocoria (a white or yellow reflex in the pupil)
Nystagmus (involuntary eye movements)
Retinal folds or detachments
Floaters
Vision loss
Causes
FEVR is caused by genetic mutations that affect the development and function of retinal blood vessels. These mutations typically involve genes that are important for the Wnt signaling pathway, which plays a crucial role in angiogenesis (the formation of new blood vessels). The most commonly affected genes include FZD4, *LRP5*, *NDP*, *TSPAN12*, and *KIF11*. FEVR is usually inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to cause the disorder. However, autosomal recessive and X-linked recessive inheritance patterns can also occur.
Medicine Used
There is no specific medicine that cures FEVR. Treatment focuses on managing the complications of the disease and preserving vision. Common treatment options include:
Laser photocoagulation: Used to destroy abnormal blood vessels and prevent further leakage or bleeding.
Cryotherapy: Freezing abnormal areas of the retina.
Vitrectomy: A surgical procedure to remove the vitreous gel from the eye and repair retinal detachments.
Scleral buckling: A surgical procedure to indent the eye wall and relieve traction on the retina.
Anti-VEGF injections: Medications that inhibit vascular endothelial growth factor (VEGF) to reduce abnormal blood vessel growth and leakage.
Is Communicable
No, FEVR is not communicable. It is a genetic disorder and cannot be spread from person to person.
Precautions
Since FEVR is a genetic condition, there are no specific precautions to prevent its occurrence. However, individuals with a family history of FEVR should undergo regular eye examinations to detect the condition early and monitor its progression. Genetic counseling may also be beneficial for families with FEVR to understand the inheritance pattern and assess the risk of passing the condition on to their children. Protecting the eyes from injury is always a good general precaution.
How long does an outbreak last?
FEVR is not an "outbreak" type of disease. It is a chronic condition that may progress over time. The symptoms and their severity can change throughout a person's life, and there is no specific duration for an "outbreak.
How is it diagnosed?
FEVR is diagnosed through a comprehensive eye examination, which may include:
Visual acuity testing: To assess the sharpness of vision.
Refraction: To determine the need for glasses or contact lenses.
Slit-lamp examination: To examine the front of the eye.
Indirect ophthalmoscopy: To examine the retina.
Fluorescein angiography: A dye is injected into a vein, and photographs are taken of the retina to visualize the blood vessels and detect any abnormalities.
Optical coherence tomography (OCT): Imaging test that provides cross-sectional images of the retina.
Genetic testing: To identify mutations in genes associated with FEVR.
Timeline of Symptoms
The timeline of symptoms in FEVR can vary greatly. Some individuals may be diagnosed in infancy or early childhood due to obvious symptoms such as leukocoria or strabismus. Others may not be diagnosed until later in life when they experience vision changes. Some individuals with mild FEVR may never develop noticeable symptoms. Progression can be rapid or slow, with periods of stability followed by worsening. Regular monitoring is essential to track any changes in the condition.
Important Considerations
Early diagnosis and treatment are crucial to preserving vision in individuals with FEVR.
Regular eye examinations are essential, especially for individuals with a family history of FEVR.
Genetic counseling can help families understand the inheritance pattern and assess the risk of passing the condition on to their children.
The treatment approach should be individualized based on the severity of the condition and the specific complications present.
FEVR can have a significant impact on quality of life, so it is important to provide support and resources to affected individuals and their families.
Research is ongoing to better understand the causes and develop more effective treatments for FEVR.