Familial exudative vitreoretinopathy (FEVR) is a hereditary disease characterized by pathological changes in the posterior segment of the eye, including the retina and vitreous body. This condition primarily manifests itself as the formation of exudates in the retinal area, which can lead to significant visual impairment and, ultimately, blindness. The disease often begins to manifest itself in childhood and is progressive. The pathology is associated with impaired vascular permeability, which leads to the formation of edema and hemorrhages in the retina. An important feature of FEVR is its familial nature, which suggests a genetic predisposition and possible changes in many genes responsible for vascular regulation and metabolism in the eyes.
History of the disease and interesting historical facts
Since the first description of familial exudative vitreoretinopathy in the mid-20th century, researchers have been actively studying this disease in order to elucidate its etiology and pathogenesis. In the 1960s, the English ophthalmologist Harry F. Wolfe and his colleagues were the first to document the accurate clinical picture of FEVR, emphasizing a possible familial predisposition. In the following decades, with the advent of new imaging technologies such as fluorescein angiography and optical coherence tomography, diagnostic capabilities have increased significantly. The growing patient database has also made it possible to create genetic panels to identify individuals predisposed to the disease.
Epidemiology
According to the available data, the prevalence of familial exudative vitreoretinopathy varies from 1 in 5,000 to 1 in 10,000 population. Moreover, there is a high degree of variability depending on the geographic area and ethnicity. According to recent studies, children are predominantly affected, which makes the incidence rate in the pediatric population especially relevant. Studies conducted in various countries show that about 30% cases are familial, while in others, cases are sporadic.
Genetic predisposition to this disease
Research into the genetic basis of VEDS has highlighted several key genes, including CCHCR1, which codes for a protein associated with the development of vascular permeability. Mutations have also been identified in genes involved in angiogenesis and inflammatory responses in the body. Polymorphisms have been found in various genetic populations that indicate a hereditary predisposition to the disease. For example, some studies have found an association between HLA groups and an increased risk of developing the disease.
Risk factors for the development of this disease
Risk factors that contribute to the development of familial exudative vitreoretinopathy include:
- Heredity – the presence of cases of the disease in the family;
- Its manifestation in early childhood;
- Exposure to chemicals such as perchloroethylene and heavy metals;
- The effects of infection during pregnancy, including viral infections;
- Environmental factors – environmental pollution and exposure to ultraviolet radiation.
Diagnosis of this disease
Diagnosis of familial exudative vitreoretinopathy is based on clinical manifestations that help visualize changes in the retina. The main symptoms include:
- Loss of visual acuity;
- The appearance of "flies" or flashes before the eyes;
- Deformation of visible objects;
- Color vision impairment.
Laboratory tests may include genetic testing for mutations in suspected genes. Radiological tests such as fluorescein angiography will assess the retinal vessels and determine the extent of damage. Differential diagnosis should exclude other causes of exudation and hemorrhage, such as diabetic retinopathy or low-grade inflammatory processes.
Treatment
Treatment of familial exudative vitreoretinopathy depends on the severity and activity of the disease. General approaches include:
- Monitoring sugar levels and blood pressure, if there is a corresponding pathology;
- Pharmacological interventions including anti-inflammatory and vasodilator drugs;
- Surgical procedures such as vitrectomy aimed at partial or complete removal of the vitreous body in case of severe hemorrhage;
- Laser coagulation of retinal exudates.
Each of these areas requires an individual approach, depending on the clinical picture and the patient’s condition.
List of medications used to treat this disease
The main drugs used in the treatment of VEDS include:
- Dexamethasone - to reduce inflammation;
- Aspirin - to reduce the risk of blood clots;
- LatanoPROST - selective drugs for reducing intraocular pressure;
- Antioxidant vitamins such as vitamin A and E to support retinal health.
Disease monitoring
Monitoring of patients with familial exudative vitreoretinopathy requires regular examinations to track changes in the condition of the retina. The main stages of monitoring include:
- Regular visits to the ophthalmologist every 3-6 months;
- Regular visual acuity tests;
- Fluorescein angiography to assess the retinal vascular structure;
- Optical coherence tomography to detect changes in the layers of the retina.
The prognosis of the disease depends on early diagnosis and the quality of treatment. Complications may include the development of retinal detachment, tissue scarring, and irreversible vision loss.
Age-related features of the disease
Familial exudative vitreoretinopathy most often manifests itself in early childhood. The most pronounced forms of the disease are observed in newborns and children of the first year of life, while in adolescents and adults, manifestations may be less intense. It is important to note that, despite the possible improvement of the condition during adolescence, there is a risk of relapses, as well as the appearance of new changes, which should be remembered by specialists and parents of patients.
Questions and Answers
- What is the genetic predisposition to SEVR? The condition is more common in families with a history of the disorder. Certain genes, such as CCHCR1, are associated with an increased risk.
- How is familial exudative vitreoretinopathy diagnosed? Diagnosis is based on clinical symptoms, fluorescein angiography and optical coherence tomography.
- What treatment is used for SEVR? Treatment may include conservative methods such as drug therapy, as well as surgical interventions in case of complications.
- What is the prognosis for patients with SEVR? The prognosis depends on early diagnosis and adequate treatment. In advanced cases, vision loss is possible.
- Are there any risk factors associated with developing this disease? Yes, these include heredity, exposure to chemicals, and infectious diseases during pregnancy.
Advice from Dr. Oleg Korzhikov
Understanding the symptoms and characteristics of familial exudative vitreoretinopathy is important for early detection of the disease. According to Dr. Oleg Korzhikov, parents should be especially attentive to possible changes in the vision of children, especially if there is a family history of the disease. It is recommended to undergo regular eye examinations, including special doctors and have access to genetic tests to identify risks. It is important to consider that effective treatment requires a comprehensive approach, including not only medications, but also possible surgical interventions if necessary.
