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Familial Exudative Vitreoretinopathy

CHRONIC — Retina

Symptoms

often asymptomatic (discovered on screening)

decreased vision from macular dragging or detachment

strabismus or leukocoria in childhood

Clinical Findings

Vascular & peripheral

  • peripheral retinal nonperfusion (typically temporal)
  • fimbriated border of peripheral vessels
  • supernumerary vessels and anomalous branching

Tractional & exudative

  • fibrovascular proliferation at the vascular–avascular border
  • temporal dragging of the macula
  • radial retinal folds
  • subretinal lipid exudation

Advanced complications

  • tractional, rhegmatogenous, or exudative retinal detachment
  • vitreous hemorrhage
  • neovascular glaucoma, band keratopathy, or phthisis bulbi

Etiology

Genetics & mechanism

  • defects in wnt signaling (fzd4, lrp5, tspan12, ndp genes)
  • inheritance: autosomal dominant (most common), recessive, or x-linked
  • incomplete peripheral retinal vascularization in a full-term infant

Clinical associations

  • osteoporosis-pseudoglioma syndrome: associated with lrp5 mutations (check bone density)
  • key distinction: occurs without a history of prematurity or supplemental oxygen

Red Flags

peripheral avascular retina with neovascularization

progressive macular dragging or tractional retinal detachment

positive family history with asymmetric clinical signs

unexplained vitreous hemorrhage in a young adult

Investigations

Imaging

  • widefield fluorescein angiography (fa): essential to identify nonperfusion and leakage
  • fa is the most sensitive test for identifying asymptomatic carriers

Clinical screening

  • mandatory dilated fundus exam for all first-degree relatives
  • genetic testing: fzd4, lrp5, tspan12, and ndp
  • systemic workup: inquire about fractures and consider dxa scan if lrp5 mutation suspected

Treatment

Medical & laser

  • laser photocoagulation or cryotherapy of avascular zones to prevent proliferation
  • anti-vegf injections for neovascular leakage or macular edema

Surgical intervention

  • pars plana vitrectomy or scleral buckle for retinal detachment

Vision support

  • refractive correction and aggressive amblyopia therapy
  • genetic counseling for the family

Differential Diagnosis

  • retinopathy of prematurity (rop): distinguished by full-term birth and family history
  • coats disease
  • norrie disease
  • persistent fetal vasculature (pfv)
  • incontinentia pigmenti
  • toxocariasis

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