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
Figure 1: Color fundus photo. A. OD showing retinal fold extending superonasally from the disc with vascular dragging and foveal displacement B. OS normal.
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
Figure 2:A. OCT macula OD showing outer retinal atrophy as well as foveal distortion. B. 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
Figure 3: FEVR clinical staging.
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
Figure 4: Fluorescein angiography findings in stage 2 FEVR: A. anomalous circumferential vessels B. expanded view C. supranumerary vascular branching D. expanded view E. disc leakage, macular aneurysms and bulb-like telangiectatic vascular endings.
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.
