Abstract
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disease that occurs in young patients and results in an avascular peripheral retina, retinal neovascularization, and tractinal retinal detachment. Patients occasionally have concurrent macular diseases. However, the vitreomacular relationship in FEVR remains unclear. We report two cases, a 22-year-old woman (case 1) and a 14-year-old boy (case 2) with FEVR who have the characteristic findings of the disease in the vitreomacular interface and the macular morphology, observed using spectral-domain optical coherence tomography (SD-OCT). In case 1, the best-corrected visual acuity (BCVA) was 20/20 bilaterally. SD-OCT showed a perifoveal posterior vitreous detachment (PVD) with vitreofoveal adhesion in the left eye. In case 2, SD-OCT showed a perifoveal PVD in the right eye (BCVA, 20/30) with numerous small deposits that appeared as rod-shaped attachments perpendicular to the parafoveal face without intraretinal and subretinal materials beneath the posterior hyaloid face that corresponded to white material on the fundus examination. Fluorescein angiography showed a circumferential peripheral avascular area and peripheral neovascularization in both cases. These SD-OCT findings suggested that a perifoveal PVD and small deposits, which appeared as rod-shaped attachments perpendicular to the parafoveal face in patients with FEVR, may carry the risk of macular disease and decreased visual acuity.
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Shimouchi, A., Takahashi, A., Nagaoka, T. et al. Vitreomacular interface in patients with familial exudative vitreoretinopathy. Int Ophthalmol 33, 711–715 (2013). https://doi.org/10.1007/s10792-012-9707-1
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DOI: https://doi.org/10.1007/s10792-012-9707-1