RFLP Analysis of Mutated Transthyretin in Vitreous Amyloidosis

  • O. Sandgren
  • G. Holmgren
  • E. Lundgren
  • L. Steen


Amyloid deposits of the vitreous are usually associated with familial amyloidosis of the neuropathic type (FAP) and has been reported in the Portuguese as well as the Japanese and the Swedish forms of FAP type 1. Vitreous opacities are also found in the Jewish FAP type 1 and in the Indiana/Swiss FAP type 2. However sporadic cases with vitreous opacities and cases without systemic disease have been reported.


Amyloid Deposit RFLP Marker Familial Amyloidotic Polyneuropathy Vitreous Opacity Village Type 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Saraiva MJM, Costa PP, Birken S. et al: Presence of an abnormal trans-thyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Trans Assoc Am Physicians 1983;96:261–270.Google Scholar
  2. 2.
    Sasaki H, Sasaki Y, Matsuo H. et al: Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques. Biochem Biophys Res Commun 1984;125:636–642.CrossRefGoogle Scholar
  3. 3.
    Nakazato M, Steen L, Holmgren G. et al: Structurally abnormal transthy-retin causing familial amyloidotic polyneuropathy in Sweden. Clin Chim Acta 1987; in pressGoogle Scholar
  4. 4.
    Nakazato M, Kangawa K, Minamino N. et al: Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin. Biochem Biophys Res commun 1984; 123:921–928.CrossRefGoogle Scholar
  5. 5.
    Dwulet FE, Benson MD: Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss). J Clin Invest 1986;78:880–886.CrossRefGoogle Scholar
  6. 6.
    Andersson R, Kassman T: Vitreous opacities in primary familial amyloidosis. Acta Ophthalmol 1968; 46:441–447.Google Scholar
  7. 7.
    Coutinho P, Silva AM da, Lima Lj. et al: Forty years of experience with type I amyloid polyneuropathy. Review of 483 cases in “Amyloid and Amyloidosis,” Glenner, Pinho e Costa, de Freitas, eds. pp 88–89 Excerpta Medica, Amsterdam (1980).Google Scholar
  8. 8.
    Kito S, Itoga Y, Ito Y. et al: Clinical and biochemical studies on the Ogawa village type hereditary amyloidosis with DMSO therapy, in “Amyloid and amyloidosis” pp 153–165 Excerpta medica, Amsterdam (1980).Google Scholar
  9. 9.
    Araki S, Kurihara T, Tawara S and Kuribayashi T: Familial amyloidotic polyneuropathy in Japanese. Clinical, pathophysiological, biochemical and therapeutic studies. See ref. 8. pp 67–77.Google Scholar
  10. 10.
    Tsukahara S and Matsuo T: Secondary Glaucoma Accompanied with primary familial amyloidosis. Ophthalmologica, Basel 1977;175:250–262.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1988

Authors and Affiliations

  • O. Sandgren
    • 1
  • G. Holmgren
    • 2
  • E. Lundgren
    • 3
  • L. Steen
    • 4
  1. 1.Departments of OphthalmologyUniversity of UmeåSweden
  2. 2.Clinical GeneticsUniversity of UmeåSweden
  3. 3.The Unit for Applied Cell and Molecular BiologyUniversity of UmeåSweden
  4. 4.Internal MedicineUniversity of UmeåSweden

Personalised recommendations