OBSERVATIONS: A 12-year-old girl with Familial Mediterranean Fever (FMF) was referred due to blurred vision in both eyes. Ophthalmoscopic examination revealed mild vitreous hemorrhage, large neovascularization at the disc (NVD), extensive neovascularization along the arcades (i.e., NVE
neovascularization elsewhere), retinal arteriolar narrowing, silver sheathing of the veins and preretinal hemorrhages. Fluorescein angiography (FA) demonstrated prominent leakage from multiple large NVEs. A thorough and multidisciplinary evaluation ruled out metabolic, thrombotic, infectious, inflammatory, or autoimmune etiologies. Notably, however, brain magnetic resonance imaging (MRI) revealed leukodystrophy yet poorly correlated with her clinical manifestation. Strikingly, whole exome sequencing uncovered a homozygous mutation in the CONCLUSIONS: This case suggests that