Familial Exudative Vitreoretinopathy (FEVR) (Grand Rounds)

From EyeWiki
Original article contributed by: Jesse L. Berry, MD
All contributors: Jennifer I Lim MD and Jesse L. Berry, MD
Assigned editor: Felix Y. Chau, MD
Review: Assigned status Up to Date by Jesse L. Berry, MD on June 6, 2017.

Grand Rounds Chief Complaint Summary Goes Here


  • 22-year-old male with history of retinal detachment repair OD as a 5-year-old child, seen for a second opinion regarding decreased vision in that eye since the surgery

Exam Findings

  • VA 20/100 OD with external examination only notable for focal lens opacity posteriorly at one o’clock
  • Dilated fundus exam notable for retinal fold extending superonasally from the disc as well as vascular dragging causing foveal displacement
You Give Me 1.jpg

Differential Diagnosis

  • Familial exudative vitreoretinopathy (FEVR)
  • Retinopathy of Prematurity (ROP)
  • Persistent hyperplastic primary vitreous (PHPV)
  • Coat’s disease
  • Toxocariasis
  • High myopia
  • Retinoblastoma (Rb)

Additional Investigations

  • OCT macula showing outer retinal atrophy as well as inner retinal folds and distortion in the affected eye OD (see Figure 2), while OCT macula OS normal
You Give Me 2.jpg


  • FEVR (Familial Exudative Vitreoretinopathy)


  • Driven by fibrovascular changes as a result of peripheral avascular retina with progression through five clinical stages
  • Associated with mutations in the Wnt pathway
  • Important to distinguish from ROP, as FEVR (no history of prematurity or low birth weight) can re-activate later in life while ROP has an involutional natural history
You Give Me 3.jpg


  • Laser ablation of avascular retina in stage 1-2A disease; scleral buckle vs vitrectomy (lens-sparing vs non-lens sparing approach) for more advanced stages of disease
You Give Me 4.jpg

Prognosis and Future Directions

  • Risk of re-activation and disease progression later on in life (has been observed up through the age of 40)
  • Importance of screening asymptomatic family members: study by Kashani et al., up to 58 percent of asymptomatic family members had stage 1 or 2 FEVR and 21 percent had stage 3, 4, or 5 FEVR
  • Screening most effectively done through fluorescein angiography to detect early stage 2 changes (see Figure 4)


  • Trese MT, Kashani AH. Advances in the diagnosis, management and pathophysiology of capillary nonperfusion. Expert Rev Ophthalmol. 2012;7(3):281-292.
  • Kashani AH, et al. High Prevalence of Peripheral Retinal Vascular Anomalies in Family Members of Patients with Familial Exudative Vitreoretinopathy. Ophthalmology. 2014 Jan;121(1):262-268.
  • Kashani AH, et al. Diversity of Retinal Vascular Anomalies in Patients with Familial Exudative Vitreoretinopathy. Ophthalmology. 2014 Nov;121(11):2220-7.
  • Pendergast SD, Trese MT. Familial Exudative Vitreoretinopathy. Results of Surgical Management. Ophthalmology. 1998 Jun;105(6):1015-23.
  • Ranchod TM, et al. Clinical Presentation of Familial Exudative Vitreoretinopathy. Ophthalmology. 2011 Oct;118(10):2070-5.
  • The International Classification of Retinopathy of Prematurity Revisited. Arch Ophthalmol. 2005;123(7):991-999.
  • Jeng-Miller KW, et al. Fluorescein Angiography in Persistent Fetal Vasculature. Ophthalmol. 2017 Apr;124(4):455.z
  • Shastry BS. Persistent hyperplastic primary vitreous: congenital malformation of the eye. Clin Exp Ophthalmol. 2009 Dec;37(9):884-90.


  • Amir Kashani, MD, PhD, Assistant Professor of Clinical Ophthalmology, ahkashan@med.usc.edu
  • Arezu Haghighi, MD, PGY-2 Ophthalmology resident, arezu.haghighi@med.usc.edu