History

• 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

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

Diagnosis

• FEVR (Familial Exudative Vitreoretinopathy)

Pathophysiology

• 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

Treatment

• 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

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)

References

• 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.

Contact

• 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

Section Editors

• Vivek Patel, MD, Associate Professor of Clinical Ophthalmology, Program Director, vivek.patel@med.usc.edu
• Jesse Berry, MD, Assistant Professor of Clinical Ophthalmology, Associate Program Director, jesse.berry@med.usc.edu

Produced by: Monica Chavez, John Daniel, Joseph Yim and Dr. Vivek Patel