While genetic testing may be useful in the diagnosis of FEVR, a negative genetic test does not rule out the disease.Diagnosis

Diagnosis of FEVR is often made through direct visualization of the retina and fluorescein angiography, along with personal and family medical history. Hallmark characteristics of FEVR include lack of blood vessels in the peripheral retina. Other findings may include vessel and macular dragging, sub-retinal exudates, neovascularization, retinal folds, and retinal detachments. FEVR must be differentiated from other diseases involving incomplete vascularization of the retina including retinopathy of prematurity (ROP), Norrie disease, Coats disease, and others. Severity of disease is highly variable and can range from mild visual impairment to complete vision loss. Based on the severity of the disease, FEVR is diagnosed based on a clinical staging scale from 1 to 5. Since FEVR often runs in families, immediate relatives of someone diagnosed with FEVR should be examined by an ophthalmologist because the disease can have no symptoms before complications arise including retinal detachments.Treatment
Treatment is largely aimed at reducing the amount of new blood vessel growth and preventing complications that may arise as a result, including retinal tears and detachments. Using a laser, an ophthalmologist burns the portions of the retina that are not supported by blood vessels, a technique known as laser photocoagulation. By doing so, this tissue will no longer release molecules that stimulate blood vessel growth. If a retinal detachment occurs, laser therapy or surgery may be required to repair the retina.
The condition often impacts the formation of the knees, legs or feet that is sometimes addressed through surgery. For some with tightly webbed, bent knees or knees that are fused straight, disarticulation surgery at the knee may be a viable option to maximize mobility options.Before more comprehensive medical treatment was available, full amputation of the legs at the hip was often performed. More recently, the amputation (actually a disarticulation because no cutting of the bone is involved) is done at the knee for those who have bent knee positions and webbing between thigh and calf to enable more ease of mobility and better seating. Some children with knee disarticulation use prosthetic legs to walk. Prosthetics for children without substantial hip and trunk control is usually abandoned in favor of faster and easier wheelchair mobility as the childs weight and age increase. Children may walk on their hands and generally are able to climb and move about to accomplish whatever they need and want to accomplish. Children more mildly affected may have normal gait and no need for assistive devices for walking. Others may walk with bracing or crutches.There is typically no cognitive impairment associated with this disability. Adults with this disability live independently, attend college, and have careers in various fields. In 2012, Spencer West, a man with sacral agenesis and both legs amputated, climbed Mount Kilimanjaro using only his hands. In 2021, athlete Zion Clark broke the Guinness World Record 20m running on hands.