Familial exudative vitreoretinopathy is an inherited disorder of retinal vascular development that leads to incomplete peripheral vascularisation, exudation, and potential retinal traction. It can resemble retinopathy of prematurity but occurs in full-term infants and older individuals.
Features
Findings include peripheral avascular retina, abnormal new vessels, lipid exudates, and fibrovascular proliferation that may cause dragging of the macula or retinal detachment. Severity ranges from asymptomatic peripheral changes to profound visual loss.
- Often inherited in an autosomal dominant pattern with variable expressivity
- Both eyes are usually affected but not always to the same degree
- Widefield imaging helps document peripheral vascular anomalies
- Some individuals are diagnosed only after a relative is found to have the condition
Management
Treatment aims to prevent progression by ablating avascular peripheral retina with laser or cryotherapy and managing complications such as retinal detachment surgically. Lifelong monitoring is needed because new areas of activity can appear.
- Family screening can reveal clinically silent disease in relatives
- Early detection allows intervention before traction becomes advanced
- Visual rehabilitation and low vision support may be necessary in severe cases
- Genetic counselling informs families about inheritance and recurrence risk
