Coats' disease

Retinal detachment

Neuroscience

Biology

Angiogenesis

Retina

Retinopathy

Retinal

Ophthalmology

Endocrinology

Proliferative vitreoretinopathy

Neovascularization

Fluorescein angiography

Pathophysiology

Internal medicine

Medicine

Disease

Pathology

Diabetes mellitus

Asia-Pacific Journal of Ophthalmology

Familial exudative vitreoretinopathy (FEVR) is a heritable vitreoretinopathy characterized by anomalous retinal vascular development. The principal feature of the disease is an avascular peripheral retina. This in turn can cause further pathological changes including neovascularization, exudation, hemorrhage, and retinal detachment. The biological basis of the disease is thought to be from defects in the Wnt signaling pathway. Many gene mutations have been implicated, and these can be inherited in an autosomal dominant (most common), autosomal recessive, and X-linked recessive fashion. Examination with wide-field fluorescein angiography is essential and can identify the disease in its earlier stages, enabling timely treatment, in addition to helping identify asymptomatic family members. The current treatment paradigm involves laser photocoagulation of the avascular peripheral retina for neovascular sequelae and vitreoretinal surgery for progressive retinal detachment. Further studies are underway to better characterize this complex vitreoretinopathy.

Familial Exudative Vitreoretinopathy: Pathophysiology, Diagnosis, and Management