familial exudative vitreoretinopathy type 4

Pathology

• disorder of the retinal vasculature
• abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina
• this may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult
• new vessels are prone to leakage & rupture causing exudates & bleeding, followed by scarring, retinal detachment & blindness

Genetics

• inheritance can be
  • autosomal dominant (Criswick-Schepens syndrome)
  • autosomal recessive
• associated with defects in LRP5

Clinical manifestations

• highly variable, even within the same family
• patients with mild forms of the disease are asymptomatic, & their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery

More general terms

• familial exudative vitreoretinopathy
• syndrome

Database

• OMIM: https://mirror.omim.org/entry/601813