Patient's question:
Next, I went back to the hospital for a follow-up check, and the results showed some improvement. Now, my child is 43 days old. I am the father of the child, and I was also checked for a vitreoretinal disease, but it has no impact on my eyes. For the sake of my child, I am working hard to find a hospital for treatment.Doctor's answer:
Disease Analysis: Familial Exudative Vitreoretinopathy (FEVR)This condition simultaneously affects both eyes, with the severity of the disease in each eye not necessarily being equal. Most cases have a history of autosomal dominant inheritance. The main clinical features include: avascular areas in the peripheral retina, angiomatous proliferation at the junction between the vascular and avascular retina, tractional retinal vessels in the posterior pole, and retinal folds; most cases involve both eyes. While patients with a family history are easier to diagnose, those without a family history should not be ruled out for FEVR. This is a chronic progressive disease. Visual impairment varies depending on the severity of the retinal and vitreous lesions. Tractional retinal detachment can lead to blindness. The disease progression is often limited to childhood, and after the age of 18, vision loss rarely occurs unless there is a tractional retinal detachment. Reports indicate that the incidence of tractional retinal detachment can reach 21%, with most cases occurring before the age of 30. Some authors classify this disease into three stages:
1. Stage 1: Using indirect ophthalmoscopy with scleral indentation, the temporal peripheral retina at the site of indentation and its surrounding areas appear pale, with no abnormality in retinal vessels. There are also no exudative changes in the retina.
2. Stage 2: New vessels appear in the temporal retina from the equator to the ora serrata. The retina and its underlying area show exudation. Limited retinal detachment occurs, with temporal fibrovascular membranes tractioning the retinal vessels, leading to macular displacement.
3. Stage 3: The disease progresses further, with tractional retinal detachment observed. There is significant exudation in the retina and subretinal space.
Complications: The disease can be complicated by cataracts, iris atrophy, neovascular glaucoma, and other anterior segment eye disorders.
Treatment and Prognosis: There is currently no effective treatment for this disease. The prognosis varies depending on the severity of the disease and whether it progresses. Early laser photocoagulation in the affected areas may help prevent further progression. If the disease stops at Stage 1, visual function can be preserved. However, if it continues to progress, severe vitreoretinal damage leads to a poor prognosis. Tractional retinal detachment in FEVR is difficult to reposition, and vitrectomy with scleral buckling may be attempted if necessary.
Pathogenesis: Some believe it is due to abnormal development of retinal vessels and vitreous during embryonic stages, classified as a variant of congenital retinal folds. However, others suggest that full-term newborns may exhibit individual differences or developmental abnormalities in retinal vessel development, with avascular areas near the ora serrata. At birth, sudden increases in fetal hemoglobin oxygen saturation and rapid changes in fetal partial oxygen pressure (fetal PO2) to neonatal partial oxygen pressure (neonatal PO2) can lead to constriction and obstruction of terminal retinal vessels, causing local ischemia and hypoxia. This triggers abnormal proliferation of peripheral retinal vessels, leading to exudation, bleeding, and organization, resulting in a series of pathological changes. The changes and progression in the fundus are highly similar to those of retinopathy of prematurity.
Disease Description: Familial Exudative Vitreoretinopathy is an autosomal dominant genetic disorder characterized by avascular areas in the temporal retina.
Symptoms and Signs: Common features include peripheral fibrovascular proliferation and tractional retinal detachment, often accompanied by subretinal exudation or exudative detachment in newborns or during adolescence. Late-stage complications may include retinal detachment due to retinal holes. The disease is usually bilateral but can be asymmetrical.
Disease Etiology: It is generally considered to be autosomal dominant genetic. Recent studies have identified three genetic patterns:
1. Autosomal Dominant Inheritance: (50% inheritance probability if one parent is affected; 75% if both parents are affected.)
2. Autosomal Recessive Inheritance
3. X-linked Recessive Inheritance
Diagnostic Tests: Necessary ophthalmic examinations include fundus photography, fluorescein fundus angiography (FFA), and B-scan ultrasonography. It should be differentiated from retinopathy of prematurity. Patients with FEVR are full-term births without oxygen exposure history and may have a family history. Mild cases may only show vessel tortuosity and peripheral non-perfusion. A family history, absence of prematurity or oxygen exposure, bilateral disease, vitreous opacity, and characteristic findings on ophthalmoscopy and FFA are important for diagnosis.
Guidelines for Differential Diagnosis: Conditions to be differentiated include retinopathy of prematurity and Coats disease. Retinopathy of prematurity is associated with prematurity, low birth weight, and oxygen exposure history, without a family history. Coats disease lacks vitreous lesions, does not involve widespread vitreoretinal adhesion, and exudation is not limited to the peripheral retina. Ophthalmoscopic findings differ significantly from FEVR. FFA shows numerous, densely distributed retinal vessel branches that abruptly terminate near the equator with anastomoses, along with abnormal fluorescein leakage. Peripheral retinal capillaries show areas of non-perfusion.
Treatment Plan: There is currently no effective treatment for this disease. Early laser photocoagulation in affected areas may help prevent further progression. Tractional retinal detachment in FEVR is difficult to reposition, and vitrectomy with scleral buckling may be attempted if necessary. Based on the condition, the following treatments can be considered:
1. Laser Photocoagulation Therapy: For infantile FEVR, argon laser photocoagulation is generally recommended once neovascularization appears in the fundus ridge-like lesions. For children aged ≤3 years with FEVR stages ≥2 and peripheral non-perfusion areas, early laser photocoagulation is advised. Treatment should not be delayed until exudation develops.
2. Antineovascularization Therapy with Medications: Such as Lucentis or Avastin administered via intravitreal injection. This method is relatively feasible and may yield better results.
3. Vitrectomy Surgery.
Prognosis: The prognosis varies depending on the severity of the disease and whether it progresses. If the disease stabilizes at Stage 1, visual function can be preserved. However, if it continues to progress, severe vitreoretinal damage leads to a poor prognosis. FEVR diagnosed before the age of 1 has a very poor prognosis, often accompanied by amblyopia, strabismus, and leukocoria. FEVR is a lifelong fundus disease that can become active again after 20 years of remission, so lifelong regular follow-up is recommended. FEVR poses a significant threat to children's vision, but through early screening, diagnosis, and timely treatment, the blindness rate caused by FEVR can be greatly reduced.