Familial exudative vitreoretinopathy
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Specialists in the Field of Familial exudative vitreoretinopathy
Information About the Field of Familial exudative vitreoretinopathy
What is FEVR?
Familial exudative vitreoretinopathy, in short FEVR, refers to a rare congenital disease of the eye, which is characterized by an incomplete formation of blood vessels and usually affects both eyes. The condition arises as a result of premature arrest of vascular development and bears strong resemblance to retinopathy of prematurity. Owing to this similarity, in order to categorize FEVR, children have to be normal-born and must not have received oxygen treatment. Familial exudative vitreoretinopathy has a familial distribution and can present in newborns as well as in advanced age. The periphery of the retina, usually the temporal area, contains no or hardly any vessels in these patients and therefore this particular area remains avascular. Moreover, new vessels form around the ischemic area making the route of the normal retinal vessels change. Because of vessel leakage, growth of fibrovascular deposits can occur. In addition, a displacement of the macula, which is the point where we see the sharpest, may develop and is also referred to as macular ectopy. FEVR usually has a progressive course and can lead to vision loss.
What can cause vitreoretinopathy?
Vitreoretinopathy runs in families and is passed on in an autosomal-dominant or autosomal-recessive way. A number of gene mutations are already known to cause vitreoretinopathy.
Symptoms and diagnosis
Symptoms of vitreoretinopathy include visual impairment of variable severity and frequently a diminished visual acuity. It's also possible that the disease may at first present only with visual field loss, meaning that certain areas of the visual field can no longer be perceived. Potential complications include vitreous bleeding, fat deposits, macular edema , retinal folds, and detachment of the retina . This is why the disease can lead to long-term blindness of the patients.
In order to diagnose the disease, several tests are performed by an ophthalmologist. The first step is an examination of the fundus of the eye which may reveal changes caused by the disease, such as altered patterns of the retinal vessels, as well as vascular neoplasms, hemorrhages and deposits in the retina. Fluorescein angiography is an additional test, which serves to improve the visualization of the vessels. If familial exudative vitreoretinopathy is suspected, molecular genetic testing can be considered to evaluate any known gene mutations. Furthermore, an ophthalmologic examination of the parents may be useful.
How is FEVR treated?
In case FEVR is discovered by chance and due to its low extent there is no indication for therapy, it can be sufficient to start with regular check-ups without further treatment. However, if the disease is more pronounced and displays marked vascular neoplasms, surgery may be necessary. Among the surgical options are mainly laser treatments or cold therapy in case of vascular neoplasms and exudates or incipient retinal detachment. Laser therapy can be applied prophylactically to prevent the formation of new blood vessels in the first place. Generally, regular check-ups are crucial and should be attended by patients in order to detect and treat a potential aggravation of the disease early on.
Chances of cure and prognosis
A generalized prognosis is difficult to give as there are major differences in the degree of severity of the condition. On the one hand, asymptomatic carriers of the gene expression may show light signs of the disease with minimal severity, and on the other hand, severe forms of the disease may lead to loss of vision. Lifelong surveillance is generally necessary and possibly repeated surgical interventions may be required. There is also a risk of retinal detachment, which if left untreated can lead to blindness and should be treated urgently. Therefore, patients should be provided with comprehensive information about their disease and learn about potential warning signs.
Which doctors and clinics specialize in FEVR?
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