Ocular involvement in familial erythrophagocytic lymphohistiocytosis.

backgroundFamilial erythrophagocytic lymphohistiocytosis (FEL), a rare, rapidly fatal childhood disorder, is characterized by intermittent fevers, hepatosplenomegaly, cytopenia, hypercytokinemia and lymphohistiocytic infiltration with erythrophagocytosis involving multiple organs. We report the clinical and histological features of two infants with FEL and emphasize the ocular findings.

methodsMicroscopic examination of formalin-fixed, paraffin-embedded autopsy material was performed. Immunohistochemical studies were performed in case 1.

resultsThe first patient presented with clinical and laboratory features and a family history consistent with FEL, and a liver biopsy revealed a lymphohistiocytic infiltrate with erythrophagocytosis consistent with FEL. A deceased brother had been diagnosed with FEL. Autopsy showed widely disseminated lymphohistiocytic infiltrates affecting the liver, spleen, bone marrow, lungs, kidneys and brain. Histologic examination of both eyes disclosed a prominent lymphohistiocytic infiltrate of the optic nerve with destruction of nerve fiber bundles as well as milder infiltrates in the choroid, scleral canals, perineural areas in the orbit and the optic nerve head perivascularly. The second patient also had the typical clinical, laboratory and autopsy findings with similar involvement of most organs, including extensive infiltration of the spleen and bone marrow. Histologic examination of one eye revealed marked lymphohistiocytic infiltration of the entire choroid as well as milder infiltration in the trabecular meshwork, iris, ciliary body, optic nerve, meninges and around the central retinal vein in the optic nerve.

conclusionThe findings of this study further define the ocular pathologic features of FEL, which are a part of a generalized, multiorgan disseminated disease.