Familial exudative vitreoretinopathy

A genetic disorder affecting the retina

Familial exudative vitreoretinopathy (FEVR) is a rare genetic disorder that affects the retina, the light-sensitive tissue at the back of the eye. This condition is characterized by incomplete development of the retinal blood vessels, leading to a range of vision problems.

Pathophysiology

FEVR is caused by mutations in genes that are involved in the development and maintenance of the retinal vasculature. These genes include NDP, FZD4, LRP5, TSPAN12, and others. The mutations lead to abnormal blood vessel growth and can result in retinal detachment, vitreous hemorrhage, and neovascularization.

Clinical Features

The clinical presentation of FEVR can vary widely, even among members of the same family. Common symptoms include:

• Reduced visual acuity
• Strabismus (misalignment of the eyes)
• Leukocoria (white pupillary reflex)
• Retinal detachment
• Vitreous hemorrhage

Some individuals may be asymptomatic, while others may experience severe vision loss.

Diagnosis

Diagnosis of FEVR is based on clinical examination and imaging studies. Fluorescein angiography is often used to assess the retinal vasculature. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.

Genetics

FEVR is inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the gene involved. The most common form is autosomal dominant, which means a single copy of the mutated gene can cause the disorder.

Management

Management of FEVR focuses on monitoring and treating complications. This may include:

• Regular ophthalmologic examinations
• Laser photocoagulation to prevent retinal detachment
• Vitrectomy surgery for severe cases
• Genetic counseling for affected families

Prognosis

The prognosis for individuals with FEVR varies. Early detection and treatment of complications can help preserve vision. However, some individuals may experience progressive vision loss despite treatment.

Related pages

• Retina
• Retinal detachment
• Genetic disorders
• Ophthalmology