Familial amyloidotic polyneuropathy: ocular manifestations with clinicopathological observation

Clinical findings of ocular involvement in two patients with familial amyloidotic polyneuropathy are described. Both cases revealed irregular pupillary margin, white membranous material on the pupillary border and on the lens surface. Open-angle glaucoma was found in one case, and ocular hypertension in the other. Histopathological examination of the tissues obtained during trabeculectomy in Case 1 revealed a large amount of amyloid substance around the vessels of the conjunctiva and the iris and in the endothelial meshwork of the chamber angle. Electron microscopic observation revealed that amyloid fibrils had formed in the basement membrane of the endothelial cells of the blood vessels in the conjunctiva and the iris. However, no amyloid fibrils were observed in the endothelial cells of the trabecular meshwork. Crossed immunoelectrophoresis of the aqueous humor of Case 1 showed a high-protein content, especially of alpha 1-lipoprotein and ceruloplasmin. The findings described above suggest that glaucoma or ocular hypertension in association with familial amyloidotic polyneuropathy is a result of the accumulation of amyloid substance in the endothelial meshwork.