Primary familial amyloidosis with vitreous opacities

Abstract

A 41-year-old Japanese male with a new type of primary familial amyloidosis was reported. The patient developed vitreous opacities, and later, disturbances in the gastrointestinal and nervous systems. At autopsy, amyloid was observed in the vitreous and the retinal vessels. There were extensive cerebral infarcts and heavy meningo-vascular amyloid deposition. Although the postmortem study revealed slight peripheral nerve degeneration in the lower extremities secondary to amyloid deposition, there was no clinical evidence of polyneuropathy.

Cerebral amyloid angiopathy. A critical review.

“…The one syndrome of amyloidosis in which the viscera and the CNS are linked has already been mentioned. 67 " 69 It is an extremely rare condition, described in both the USA (in a family of German origin) and Japan, of widespread vascular amyloid in multiple organs, vitreous amyloid (also of vascular origin) and severe leptomeningeal amyloid deposition. In the brain, however, only meningeal vessels show amyloid in their walls, and parenchymal CAA is rarely seen.…”

Familial Amyloid Polyneuropathy: Report of an Autopsy Case with Neuropathy, Vitreous Opacities and Polycystic Kidney

“…A review of the literature on FAP autopsy studies stressed amyloid deposition in peripheral nerves, heart, kidney, meninges, skin and ocular tissues [Silva-Horta et al, 1964;Hofer and Andersson, 1975;Ogata et al, 1978], The present case presented autopsy features simi lar to those described in a 41-year-old patient from a Japanese FAP family developing disturbances in the gastrointestinal and nervous system and showing heavy amyloid deposition in the vitreous [Ogata et al, 1978],…”

Aspiration cytodiagnosis of amyloid from vitreous fluid

“…In a number of studies from different countries, patients with ocular amyloidosis have shown the TTR met-30 mutation to be the most frequent of the known mutations, sometimes with neurological involvement. 3,[12][13][14][15][16][17] A major review on the subject of ocular amyloidosis 16 and a clinical pathological review 17 further highlight the various views on amyloidosis with ocular manifestations.…”

“…The condition is usually associated with primary familial systemic amyloidosis [1][2][3] and has rarely been reported in the primary nonhereditary form. 4 -7 The diagnosis has often eluded both internists and ophthalmologists not only due to the disparity in the panorama of diseases in various countries but also due to the numerous mimics of vitreous amyloidosis, some examples being vitritis, old haemorrhage, familial vitreous degenerations, and particularly vasculitis.…”