Disease Overview
Familial exudative vitreoretinopathy affects both eyes at the same time, and the severity of the disease is not always equal on both sides.
Clinical manifestations
The main clinical features include the presence of avascular areas in the peripheral retina, vascular buds at the junction of the avascular and vascularized areas of the retina, traction-like retinal vessels in the posterior pole, and the formation of retinal folds; most eyes are affected in both eyes. Patients with a family history are certainly easy to diagnose, however, those without a family history cannot negate FEVR.
The disease is a chronic progressive disease. Visual impairment varies depending on the severity of the retinal and vitreous lesions. When detachment of the retina occurs, blindness can result. The progression of the disease is often limited to early childhood, and after the age of 18 years, there is rarely any further loss of vision if there is no retinal detachment. The incidence of retinal detachment has been reported to be as high as 21% with the majority seen before the age of 30.
Some authors have divided the disease into 3 stages.
1, stage 1 Using indirect ophthalmoscopy with scleral compression, it is seen that there is no abnormality in the pale retinal vessels in and around the temporal peripheral retinal compression. There were no exudative changes in the retina.
Stage 2 The temporal retina showed neovascularization from the equator to the serrated edge. The retina and its underside exude. Restricted retinal detachment, temporal fibrovascular membrane traction retinal vessels, forming macular deviation.
3. Stage 3 The lesion develops further and a traction retinal total detachment is found. There is a large amount of exudation from the retina and subretina.
Complications.
It can be complicated by cataract iris atrophy neovascular glaucoma and other anterior segment lesions of the eye.
Treatment and prognosis
There is no effective treatment for this disease.
The prognosis varies depending on the extent of the lesion and whether the disease progresses. Early laser photocoagulation of the lesion area is expected to prevent further progression of the lesion. If the lesion stops in the first stage, visual function can be maintained. If it continues to progress and the vitreoretinal damage is severe, the prognosis is poor.
The traction retinal detachment that occurs in this disease is difficult to reset, and vitrectomy and scleral buckling can be tried if necessary.
Pathogenesis
It is thought to be a variant of congenital retinal folds due to abnormal retinal vascular and vitreous development during the embryonic period, but others believe that term neonates can have individual differences in retinal vascular development or hypoplasia, with avascular areas near the serrated edge of the retina. At birth, the sudden rise in fetal hemoglobin oxygen saturation and the dramatic change in fetal partial pressure of oxygen (fetal PO2) to neonatal PO2 cause retinal peripheral vasoconstriction and obstruction, resulting in local ischemia and hypoxia and inducing abnormal peripheral fundic vascular proliferation, resulting in exudation, hemorrhage, and mechanization. This causes a series of pathological changes such as exudation, hemorrhage, and mechanization. The result is a series of pathological changes such as exudation, hemorrhage, and mechanization, etc. Retinopathy of prematurity has very similar fundus changes and evolution.
Disease Description
Familial exudative vitreoretinopathy is autosomal dominant and is characterized by the absence of vascularization in the temporal retina.
Symptoms and signs
Peripheral fibrovascular hyperplasia and retinal detachment with subretinal exudates or exudative detachments are common in neonates or adolescents. Foraminal retinal detachment may occur in late stages. It is usually bilateral, but the degree may be asymmetric.
Etiology of the disease
It is generally considered to be autosomal dominant.
Recent studies have identified three modes of inheritance.
1, autosomal dominant (uniparental, 50% probability of inheritance; biparental, 75% probability of inheritance.)
2, autosomal recessive inheritance
3.chromosomal chain recessive inheritance
Diagnostic tests
Some necessary ophthalmic examinations such as fundus color photography, fluorescence angiography FFA, ocular ultrasound, etc. are needed.
It should be differentiated from retinopathy of prematurity. Patients with this disease are born at term, without a history of oxygen aspiration, with a family history, and in mild cases only vascular straightening and absence of perfusion in the periphery.
A family history of bilateral disease, vitreous opacities, and specific suboptic and FFA findings are important for the diagnosis of this disease.
Differential diagnosis.
Those that need to be differentiated from this disease are retinopathy of prematurity and Coats disease. Coats disease has no vitreous lesions, no extensive vitreoretinal adhesions, and no exudation limited to the peripheral fundus.
The FFA showed numerous, densely distributed retinal vessels that fan out near the equator and abruptly abort their terminal anastomoses, with abnormal fluorescein leakage. The retinal capillaries in the peripheral part of the fundus had no perfusion area.
Treatment options
There is no effective treatment for this disease. Early laser photocoagulation of the lesion area is expected to stop further progression of the lesion. The retinal detachment with retraction that occurs in this disease is difficult to reset, and vitrectomy and scleral buckling can be tried if necessary.
Depending on the condition, it can take.
1.Laser photocoagulation: Regarding infantile-type FEVR, argon laser photocoagulation is generally advocated when neovascularization appears in the crista-like lesion area of the fundus; age ≤ 3 years, peripheral avascular area of FEVR stage ≥ 2, laser photocoagulation is performed as early as possible; treatment is not favored until the lesion develops with exudation.
2, anti-neoangiogenic factor drug treatment: such as Lucentis, Avastin vitreous cavity injection. This method is more feasible, and the efficacy will be better.
3.Vitreous excision surgery.
Prognosis
The prognosis varies depending on the extent of the lesion and whether the disease progresses. If the lesion stops at stage 1, the visual function can still be maintained. If it continues to progress and the vitreoretinal damage is severe, the prognosis is poor.
FEVR that occurs within the first year of life has a poor prognosis and is often combined with amblyopia, strabismus, and white pupil disease.
FEVR is a lifelong fundus disease that can be quiescent for 20 years and then become active again, so regular lifelong follow-up is advocated.
The disease is a major visual threat to children, but with early screening, early diagnosis and timely treatment, the blindness rate of FEVR will be greatly reduced.