Immotile-cilia Syndrome and the Cilia of the Eye

  • B. Svedbergh
  • V. Jonsson
  • B. Afzelius
Conference paper
Part of the Current Research in Ophthalmic Electron Microscopy book series (CR OPHTHALMIC, volume 4)


Ten patients with the immotile-cilia syndrome were subjected to an extensive eye examination, which failed to demonstrate any consistent single abnormality. The tests of the retinal function and the aqueous humor dynamics were normal. However, different corneal abnormalities -mostly without clinical significance -were observed in 9 out of 10 patients, suggesting a developmental disturbance.


Retinitis Pigmentosa Ciliated Cell Trabecular Meshwork Corneal Thickness anterIor Chamber Depth 
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.


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  1. Afzelius BA (1976) A human syndrome caused by immotile cilia. Science 193: 317–319PubMedCrossRefGoogle Scholar
  2. Afzelius BA (1979) The immotile-cilia syndrome and other ciliary diseases. International Review of Experimental Pathology 19: 1–43PubMedGoogle Scholar
  3. Arden GB, Fox B (1979) Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa. Nature 279: 534–536PubMedCrossRefGoogle Scholar
  4. Bárány E (1946) The Stiles-Crawford phenomenon in polarized light. Acta Ophthalmol 24:93–97Google Scholar
  5. Bill A, Lütjen-Drecoll E, Svedbergh B Effect of intracameral Na2EDTA and EGTA on aqueous outflow routes in the monkey eye. Invest Ophthalmol Visual Sci (accepted for publ) Bonds AB, MacLeod DIA (1978) A displaced Stiles-Crawford effect associated with an eccentric pupil. Invest Ophthalmol Visual Sci 17: 754–761Google Scholar
  6. Camner P, Afzelius BA, Eliasson R, Mossberg B (1979) Relation between abnormalities of human sperm flagella and respiratory tract disease. Int J Andrology 2: 211–224CrossRefGoogle Scholar
  7. Carenini BB (1957) Sulla utilizzazione clinica del fenomeno di Haidinger. Bolletino Oculistica 36:753–768Google Scholar
  8. De Robertis E (1956) Electron microscopic observations on the submicroscopic organization of the retinal rods. J Biophys Biochem Cytol 2: 319–329CrossRefGoogle Scholar
  9. Eliasson R, Mossberg B, Camner P, Afzelius BA (1977) The immotile-cilia syndrome. New England J Med 297: 1–6CrossRefGoogle Scholar
  10. Enoch JM (1978) Vertebrate receptor optics and orientation. International Symposium on Ophthal-mological Optics, Tokyo, Japan, pp 1–10Google Scholar
  11. Fox B, Bull TB, Arden GB Variations in the ultrastructure of human nasal cilia including abnormalities found in retinitis pigmentosa. J Clin Pathol (accepted for publ)Google Scholar
  12. Fürst CM (1904) Zur Kenntnis der Histiogenese und Wachstum der Retina. Acta Univ, Lund, Sweden, 40:1–45Google Scholar
  13. Gipson IK (1977) Cytoplasmatic filaments: their role in motility and cell shape. Invest Ophthalmol Visual Sci 16: 1081–1084Google Scholar
  14. Gullstrand A (1905) Die Farbe der Macula centralis retinae. Albrecht v. Graefes Arch Ophthalmol 62:1–72CrossRefGoogle Scholar
  15. Hahnenberger RW Effect of iodoacetate, azide, vinblastine and colchicine on the ability of fast anterograde axoplasmatic transport to overcome a pressure barrier. Acta Physiol Scand (accepted for publ)Google Scholar
  16. Halldén U (1957) An explanation of Haidinger’s brushes. Arch Ophthalmol 57:393–399CrossRefGoogle Scholar
  17. Hogan MJ, Alvarado JA, Weddell JE (1971) Histology of the human eye, pp 107, 159 and 427. WB Saunders, Philadelphia, London and TorontoGoogle Scholar
  18. Jerndal T, Hansson H-A, Bill A (1978) Goniodysgenesis -a new perspective on glaucoma. Scriptor, CopenhagenGoogle Scholar
  19. Kartagener M (1933) Zur Pathogenese der Bronchiektasien. I. Bronchiektasien bei Situs viscerum inversus. Beitr Klin Tuberk 83: 489–501CrossRefGoogle Scholar
  20. Matsusaka T (1976) Cytoplasmic fibrils of the connecting cilium. J Ultrastruct Res 54: 318–324PubMedCrossRefGoogle Scholar
  21. Mossberg, B, Afzelius BA, Eliasson R, Camner P (1978) On the pathogenesis of obstructive lung disease. A study on the immotile-cilia syndrome. Scand J resp Dis 59: 55–65Google Scholar
  22. Oliver JM (1976) Impaired microtubule function correctable by cyclic AMP and cholinergic agonists in the Chediak-Higashi syndrome. Amer J Pathol 85: 395–412Google Scholar
  23. Radnot M, Varga M, Lovas B (1970) Les cils isolés dans les cellules mesodermales de l’aeil. Ann Oculist (Paris) 203:355–359Google Scholar
  24. Renard G, Hirsch M, Galle P, Pouliquen Y (1976) Les cellules ciliées de l’endothelium cornéen. Arch Ophthalmol (Paris) 36:59–72Google Scholar
  25. Stenström S (1946) Untersuchungen über die Variation und Kovariation der optischen Elemente des menschlichen Auges. Acta Ophthalmol Suppl 26Google Scholar
  26. Svedbergh B, Bill A (1972) Scanning electron microscopic studies of the corneal endothelium in man and monkeys. Acta Ophthalmol 50:321–336Google Scholar
  27. Svedbergh B, Lütjen-Drecoll E, Ober M, Kaufman P (1978) Cytochalasin B-induced structural changes in the anterior ocular segment of the cynomolgus monkey. Invest Ophthalmol Visual Sci 17: 718–734Google Scholar
  28. Vegge T (1963) Ultrastructure of normal human trabecular endothelium. Acta Ophthalmol 41: 193–199Google Scholar
  29. Wolf J (1968) Inner surface of regions in the anterior chamber taking part in the regulation of the intraocular tension, including the demonstration of the covering viscous substance. Docum Ophthalmol 25:113–149CrossRefGoogle Scholar
  30. Young RW (1976) Visual cells and the concept of renewal. Invest Ophthalmol 15:700–725Google Scholar

Copyright information

© Springer-Verlag Berlin · Heidelberg 1981

Authors and Affiliations

  • B. Svedbergh
    • 1
  • V. Jonsson
    • 1
  • B. Afzelius
    • 2
  1. 1.The Department of OphthalmologyKarolinska HospitalStockholmSweden
  2. 2.Wenner-Gren InstituteStockholmSweden

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