Familial oculoleptomeningeal amyloidosis

Members of a German family living in Ohio (United States) have been found to have dominantly inherited amyloidosis causing dementia, seizures, strokes, coma and visual deterioration. Pathological examination of affected individuals has shown severe, diffuse amyloidosis of the leptomeninges and subarachnoid vessels associated with patchy fibrosis and obliteration of the subarachnoid space. Amyloid deposits were prominent on the ependymal surfaces and severe and diffuse neuronal loss and generalized subpial gliosis were found in the cerebrum and cerebellum. On occasion superficial brain infarcts were seen. Amyloid was also found in the vitreous, the retinal internal limiting membrane and the retinal vessels, particularly those in the nerve fibre layer. There was only minimal amyloid elsewhere.