LONGITUDINAL CHANGES IN THE OPTIC NERVE HEAD AND RETINA OVER TIME IN VERY YOUNG CHILDREN WITH FAMILIAL EXUDATIVE VITREORETINOPATHY

Abstract

Purpose: To explore vitreoretinal pathologies and their longitudinal changes visible on handheld optical coherence tomography (OCT) of young children with familial exudative vitreoretinopathy.

Methods: The authors retrospectively analyzed handheld OCT images for vitreoretinal interface and retinal abnormalities and optic nerve head (ONH) elevation.

Results: From 26 eyes of 16 children (mean age 32 months) with familial exudative vitreoretinopathy, 10 had ONH dragging on photographs, and in these, handheld OCT revealed temporal and anterior retinal displacement, prominent vitreopapillary adhesion or traction, and retinal nerve fiber layer thickening at ONH margins with adjacent retinal elevation. Despite a nearly normal photographic appearance, handheld OCT revealed ONH elevation with vitreopapillary traction (6/16 eyes), ONH edema (1/16 eye), and retinal vascular protrusion (5/16 eyes). Handheld OCT-visualized vitreous abnormalities (18/26 eyes) were more prevalent at higher stages of disease. Handheld OCT-visualized elevation of ONH and the retina worsened over time in nine eyes and improved in 5/6 eyes after vitrectomy.

Conclusion: Handheld OCT can detect early ONH, retinal, and vitreous changes in eyes with familial exudative vitreoretinopathy. Contraction of strongly adherent vitreous in young patients with familial exudative vitreoretinopathy appears to cause characteristic ONH dragging and tractional complications without partial posterior vitreous detachment. Vitreopapillary dragging may be visible only on OCT and may progress in the absence of obvious retinal change on conventional examination.

Conflict of interest statement

Conflict of Interest: Dr. Toth recieves royalties through her university from Alcon and had prior research support from Bioptigen and Genentech. She also has unlicensed patents pending in OCT imaging and analysis. No other authors have financial disclosures. No authors have a proprietary interest in the current study.

Figures

Figure 1

Fundus photographs (upper) and corresponding optical coherence tomograms (lower) in five representative eyes of young children with FEVR and with optic nerve head dragging. From left to right the vitreopapillary dragging is possible (A) to a severe case with radial retinal fold (E). There is displacement of neurosensory retina (yellow arrows) toward the lesion side (mainly temporally) and upward. Note the evidence of strong vitreopapillary adhesion: focal posterior hyaloid thickening at temporal disc margin (B, red arrow) or vitreopapillary traction as evidenced by thick vitreous band at the leading edge of displaced retina (C–E, red arrows). In contrast, (A) had prior pars plana vitrectomy and showed no such attachment. Vitreopapillary adhesion is also observed in figure 2B.

Figure 2

HHOCT images of retinal nerve fiber layer (RNFL) thickening (arrows) at the temporal (B, C), superior (D) and inferior (E) optic nerve head margins of a young child with FEVR. Near the temporal margin of the disc (B, box area), there is only nerve fiber layer overlying Bruch’s membrane. Those RNFL thickenings are not actual swelling but but it appears that deeper parts of optic nerve have been drawn upward by the traction. This thickening is also visible in figure 1A and figure 1B.

Figure 3

Optical coherence tomography showing retinal elevation around the optic nerve head (ONH) in eyes with ONH dragging (A–D) in young children with FEVR. The retinal thickness map (E) and 3D reconstructed image (F) show that retinal elevation is highest at ONH area and becomes lower as it extended farther away from the ONH (arrows). Note that retinal thickening is mainly due to the thickening of the nerve fiber layer, and that the large retinal vessels of the arcades, as evidenced by focal posterior shadowing, are present at the peak of and extending along the retinal elevation.

Figure 4

Diagram: The multiple causes of optic nerve head (ONH) elevation at baseline in the eyes of young children with FEVR. Optical coherence tomographic images of ONH elevation due to focal vitreopapillary traction (A), ONH edema (B) and retinal vascular protrusion (C).

Figure 5

Optical coherence tomography of various vitreous abnormalities found in young children with FEVR; vitreomacular traction with premacular hard exudate (A), vitreofoveal traction (B), vitreomacular traction (C), preretinal hard exudate with vitreous condensation (D), preretinal vitreous organization and vitreoretinal traction (E), preretinal focal vitreous condensation (F), hyperreflective, coarse posterior hyaloid face (G), sheet-like thickening of posterior hyaloid face with focal vitreous separation (H). Familial exudative vitreoretinopathy stages were 2 (A, B, D–G), 3 (H) and 4 (C) respectively. Note that there is no posterior vitreous detachment except in one case (H). Even in the case of vitreomacular traction, the vitreous is still attached around the area of tractional elevation (C, arrows).

Figure 6

Optical coherence tomography (OCT) and 3D reconstructed images of eyes of young children with FEVR representing longitudinal optic nerve head (ONH) changes in each row A to E. The numbers at the lower left corner of each image represent the age of patients in months. A: worsening of ONH edema with premacular hard exudate, B: development of optical coherence tomography-vitreopapillary dragging (OCT-VPD) with prepapillary membrane, C: Serial images of progressing OCT-VPD over 7 months, note progressive temporal and upward movement of nasal neurosensory retina over the ONH, D: development of OCT-VPD with worsening of vitreopapillary traction, E: development of prepapillary membrane with loss of disc cupping. The corresponding eye numbers are #5 (A), #6 (D), #10 (B), #17 (C), and #18 (E) respectively.

Figure 7. Longitudinal changes after vitreoretinal surgery to remove membranes and release traction in the eyes of young children with FEVR

A: OCT in a patient who had vitreomacular traction with loss of normal foveal contour (visual acuity (VA) 20/100) and optic nerve head (ONH) elevation due to ONH dragging. Eight months after the operation, foveal depression and ellipsoid zone were almost restored, and peripapillary retinal elevation persisted despite of improvement and VA was 20/70. B: OCT in a patient who developed a macular pucker during follow up period (VA 20/80). There was ONH dragging with retinal elevation around ONH. Three years after the pars plana vitrectomy, normal foveal configuration and ellipsoid zone were restored but there was still irregular retinal nerve fiber layer thickening and VA was 20/30.

Figure 8. Conceptual diagram of familial exudative vitreoretinopathy (FEVR) pathogenesis

Left, In addition to retinal dragging due to the contraction of a peripheral fibrovascular membrane (red arrows), vitreous traction (blue arrows) is also an important factor in pathogenesis of FEVR in young children. The direction and the size of arrows represent those of tractional force. Right, from upper to lower: At the beginning, the fibrovascular membrane develops at the peripheral avascular retina. As the fibrovascular membrane contracts, a peripheral retinal fold with retinal detachment begins to develop and progresses posteriorly (centripetal progression). Meanwhile, through vitreous traction, optic nerve head elevation and dragging and retinal elevation develops and progresses peripherally beyond posterior pole (Centrifugal progression). Finally, when a centripetally progressing retinal fold bridges with a centrifugally progressing retinal elevation, the radial retinal fold develops.