Ocular involvement and visual sequelae in hemophagocytic lymphohistiocytosis in association with congenital dyfsfibrinogenemia.

We report a 7-year-old girl with hemophagocytic lymphohistiocytosis and an uncommon complication of vascular retinopathy and visual sequelae. She was also verified to be complicated with dysfibrinogenemia. The patient was treated with etoposide, dexamethasone, and cyclosporin A. During the fifth hospital week, a generalized tonic-clonic convulsion developed followed by deep coma. When she regained full consciousness, she complained of a visual disturbance. The ophthalmologic examination showed bilateral extensive retinal edema with numerous cotton-wool spots, indicative of vaso-occlusive retinopathy. This is inconsistent with the main finding of previous cases with ocular involvement, namely papilledema. Severely reduced visual acuity and visual field defects remained in both eyes even after systemic therapy. An awareness of this rare but serious complication is important because it may be preventable by early institution of chemotherapy. The pathogenesis of the retinopathy is also discussed.