Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Aqueous outflow system in familial amyloidotic polyneuropathy, Portuguese type

  • 54 Accesses

  • 13 Citations


Familial amyloidotic polyneuropathy (FAP) is a hereditary disease which may present a wide range of ocular manifestations. Glaucoma is amongst the most serious complications of FAP. We report the results of ultrastructural study of the trabecular meshwork in a glaucomatous patient with the Portuguese form of FAP. This study showed that there was marked anatomical disruption of the uveoscleral, corneoscleral meshworks and juxtacanalicular tissue characterized by (a) accumulation of amyloid fibrils in the intertrabecular spaces; (b) degeneration of the endothelial cells; (c) homogeneous and/or multilayered plaques of basement membrane-like material loading the intertrabecular spaces or protruding to the lumen of the Schlemm's canal; and (d) degeneration of unmyelinated nerve fibres. These morphological changes and an analysis of the literature suggest that mechanical and neuropathic events can be co-existing factors which enhance the resistance to aqueous humour outflow, leading to increased intraocular pressure and glaucoma in the Portuguese form of FAP.

This is a preview of subscription content, log in to check access.


  1. 1.

    Alvarado J, Murphy C, Juster R (1984) Trabecular meshwork cellularity in primary open-angle glaucoma and non-glaucomatous normals. Ophthalmology 91: 564–579

  2. 2.

    Andrade C (1952) A peculiar form of peripheral neuropathy. Familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75:408–427

  3. 3.

    Andrade C (1981) Amyloid neuropathy. In: Vinken PJ, Bruyn GW, Myrianthopolous NC (eds) Neurogenetic directory, part 1. (Handbook of clinical neurology, vol 42) Elsevier, Amsterdam, pp 518–524

  4. 4.

    Andrade LA (1961) Sulla paramiloidosi di Corino de Andrade e le sue manifestazioni oculari. Arq Port Oftalmol 13:21–40

  5. 5.

    Brownstein MIL, Elliot R, Helwig EB (1970) Ophthalmologic aspects of amyloidosis. Am J Ophthalmol 69:423–430

  6. 6.

    Carvalho J, Coimbra A, Andrade C (1976) Peripheral nerve fiber changes in asymptomatic children of patients with familial amyloid neuropathy. Brain 99:1–10

  7. 7.

    Cavallaro T, Martone RL, Dwork AJ, Schon EA, Herbert J (1990) The retinal pigment epithelium is the unique site of transthyretin synthesis in the rat eye. Invest Ophthalmol Vis Sci 31:497–501

  8. 8.

    Cohen AS, Benson MD (1975) Amyloid neuropathy. In: Dick PJ, Thomas PK, Lambert EH (eds) Peripheral neuropathy, vol 2. Saunders, Philadelphia, pp 1067–1091

  9. 9.

    Cohen AS, Connors LH (1987) The pathogenesis and biochemistry of amyloidosis. J Pathol 151:1–10

  10. 10.

    Coimbra A, Andrade C (1971) Familial amyloidotic polyneuropathy: an electron microscope study of the peripheral nerve in five cases. Brain 94:199–212

  11. 11.

    Costa P, Saraiva MJM (1988) Familial amyloidotic polyneuropathy: screening of the population at risk in Portugal. In: Isobe T, Araki S, Uchino F, Kito S, Tsubara E (eds) Amyloid and amyloidosis. Plenum Press, New York, pp 425–428

  12. 12.

    Coutinho P, Martins da Silva A, Lopes Lima J, Resende Barbosa A (1980) Forty years of experience with type I amyloid neuropathy. Review of 483 cases. In: Glenner GG, Costa PP, Freitas AF (eds) Amyloid and amyloidosis. Excerpta Medica, Amsterdam, p 88

  13. 13.

    Futa R, Inada K, Nakashima H, et al. (1984) Familial amyloidotic polyneuropathy: ocular manifestations with clinicopathological observation. Jpn J Ophthalmol 28:289–298

  14. 14.

    Guimarães A, Monteiro L, Coutinho P (1980) Pathology of the autonomic nervous system in Andrade type of familial amyloid polyneuropathy. In: Glenner GG, Costa PP, Freitas F (eds) Amyloid and amyloidosis. Excerpta Medica, Amsterdam, pp 139–146

  15. 15.

    Herbert J, Martone RL, Cavallaro T, Dwork AJ, Schon EA (1989) Intraocular synthesis of transthyretin. Arq Med (Porto) 3:193 (A28)

  16. 16.

    Inomata H, Okayama M, Oshima K (1976) Familial primary amyloidosis: light and electron microscopic histopathology of the eye. Jpn J Ophthalmol 20:51–62

  17. 17.

    Kaufmann HE (1958) Primary familial amyloidosis. Arch Ophthalmol 60:1036–1043

  18. 18.

    Martone RL, Herbert J, Dwork A, Schon EA (1988) Transthyretin is synthesized in the mammalian eye. Biochem Biophys Res Commun 151:905–912

  19. 19.

    Monteiro JG, Martins AFF, Figueira A, Saraiva MJM, Costa PP (1991) Ocular changes in familial amyloidotic polyneuropathy with dense vitreous opacities. Eye 5:99–105

  20. 20.

    Paton D, Duke JR (1966) Primary familial amyloidosis. Ocular manifestations with histopathology observations. Am J Ophthalmol 61:736–747

  21. 21.

    Rasteiro A (1986) Sur la kératite neuro-paralytique dans l'amy-lose familiale Portugaise type Corino-Andrade. Bull Mem Soc Fr Ophtalmol 97:212–214

  22. 22.

    Sá S (1960) Manifestações oculares de paramiloidose. Arq Port Oftalmol 12:91–102

  23. 23.

    Said G, Ropert A, Faux N (1984) Length-dependent degeneration of fibers in Portuguese amyloid polyneuropathy: a clinicopathologic study. Neurology 34:1025–1032

  24. 24.

    Saraiva MJM, Costa PP, Goodman DS (1983) Studies on plasma transthyretin (prealbumin) in familial amyloidotic polyneuropathy (Portuguese type). J Lab Clin Med 102:590–603

  25. 25.

    Saraiva MJM, Costa PP, Birken S, Goodman DS (1983) Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Trans Assoc Am Physicians 96:261–270

  26. 26.

    Saraiva MJM, Birken S, Costa PP, Goodman DS (1984) Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. J Clin Invest 74:104–107

  27. 27.

    Segawa K (1976) The fine structure of the iridocorneal angle tissue in glaucomatous eyes (5). Glaucoma secondary to primary familial amyloidosis. Jpn Clin Ophthalmol 30:1375–1380

  28. 28.

    Thomas PK, King RHM (1974) Peripheral nerve changes in amyloid neuropathy. Brain 97:395–406

Download references

Author information

Correspondence to António C. Silva-Araújo.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Silva-Araújo, A.C., Tavares, M.A., Cotta, J.S. et al. Aqueous outflow system in familial amyloidotic polyneuropathy, Portuguese type. Graefe's Arch Clin Exp Ophthalmol 231, 131–135 (1993). https://doi.org/10.1007/BF00920934

Download citation


  • Glaucoma
  • Aqueous Humour
  • Amyloid Fibril
  • Glaucomatous Patient
  • Trabecular Meshwork