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Familial exudative vitreoretinopathy (FEVR)

Retina & Vitreous

Key Points

  • •FEVR is a hereditary vitreoretinal disorder with bilateral peripheral avascular retina, neovascularisation, vitreoretinal traction, and retinal detachment - occurring in full-term infants
  • •Caused by mutations in Wnt/Norrin pathway genes: FZD4 (most common, AD), LRP5, NDP (X-linked), TSPAN12
  • •Looks identical to ROP but occurs without prematurity or oxygen exposure - family history and genetic testing are key differentiators
  • •FFA is the most important investigation - reveals peripheral avascular retina; mandatory for family screening
  • •Laser to avascular retina is first-line treatment for neovascularisation; vitrectomy/scleral buckle for retinal detachment; family screening is essential

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Keep reading Familial exudative vitreoretinopathy (FEVR)

17 more sections are included with the Clinical plan.

  • Definition
  • Epidemiology
  • Aetiology and causes
  • Pathogenesis
  • Classification
  • Risk factors and associations

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