Familial Exudative Vitreoretinopathy: Spectral-Domain Optical Coherence Tomography of the Vitreoretinal Interface, Retina, and Choroid

Abstract

The in vivo microstructural features of familial exudative vitreoretinopathy (FEVR) have not been well described. We present new anatomic features of FEVR with functional and genetic correlations. Consecutive, retrospective, observational case series. Patients with FEVR treated from 2009 to 2014. We identified 346 patients with FEVR. Those imaged with spectral-domain optical coherence tomography (SD OCT) with or without enhanced depth imaging (EDI) were included, and images were correlated with best-corrected visual acuity (BCVA), widefield angiography, fundus autofluorescence (AF), and wnt signaling pathway mutations. Exploratory SD OCT findings and BCVA. A total of 225 imaging sessions were acquired in 74 eyes from 41 patients. Mean age was 19.0 years. Sixty-seven eyes (91%) had interpretable images, of which 50 (75%) had anomalous microstructural findings; all eyes with FEVR severity of stage 2 or greater had abnormalities. A broad spectrum of features were identified: various forms of posterior hyaloidal organization, vitreomacular traction (VMT), vitreopapillary traction, vitreo-fold traction, vitreo-laser scar adhesion, diminished foveal contour, persistent fetal foveal architecture, cystoid macular edema (CME), intraretinal exudates and subretinal lipid aggregation, dry or edematous radial folds, and disruption of the ellipsoid zone. Mean foveal, central macular, and choroidal thicknesses were 305±145 μm, 337±160 μm, and 216±64 μm, respectively. In stages 1 to 2, greater foveal and central macular thicknesses (Rho=0.493, 0.544, respectively; both P<0.001) correlated with poorer BCVA, but not choroidal thickness (Rho=0.032; P=0.868). Posterior hyaloidal organization (P<0.001), VMT (P<0.001), CME (P<0.001), exudation (P<0.001), and disruption of the ellipsoid zone (P<0.001) were associated with poorer BCVA. Disruption of the ellipsoid zone (β=0.699; P<0.001) and posterior hyaloidal organization (β=0.289; P=0.011) retained significance in multivariate modeling (R2=0.627; P<0.001). Spectral-domain OCT detected all cases of angiographic edema and areas of outer retinal dysfunction that were hypoautofluorescent on AF. Microstructural-genetic associations were not identified. Spectral-domain OCT imaging identified microstructural anomalies in the majority of patients with FEVR.