Abstract
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.
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References
Afzelius BA (1976) A human syndrome caused by immotile cilia. Science 193:317–319
Afzelius BA (1979) The immotile-cilia syndrome and other ciliary diseases. International Review of Experimental Pathology 19:1–43
Arden GB, Fox B (1979) Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa. Nature 279:534–536
Bárány E (1946) The Stiles-Crawford phenomenon in polarized light. Acta Ophthalmol 24:93–97
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 17:754–761
Camner P, Afzelius BA, Eliasson R, Mossberg B (1979) Relation between abnormalities of human sperm flagella and respiratory tract disease. Int J Andrology 2:211–224
Carenini BB (1957) Sulla utilizzazione clinica del fenomeno di Haidinger. Bolletino Oculistica 36:753–768
De Robertis E (1956) Electron microscopic observations on the submicroscopic organization of the retinal rods. J Biophys Biochem Cytol 2:319–329
Eliasson R, Mossberg B, Camner P, Afzelius BA (1977) The immotile-cilia syndrome. New England J Med 297:1–6
Enoch JM (1978) Vertebrate receptor optics and orientation. International Symposium on Ophthalmological Optics, Tokyo, Japan, pp 1–10
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)
Fürst CM (1904) Zur Kenntnis der Histiogenese und Wachstum der Retina. Acta Univ, Lund, Sweden, 40:1–15
Gipson IK (1977) Cytoplasmatic filaments: their role in motility and cell shape. Invest Ophthalmol Visual Sci 16:1081–1084
Gullstrand A (1905) Die Farbe der Macula centralis retinae. Albrecht v. Graefes Arch Ophthalmol 62:1–72
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)
Halldén U (1957) An explanation of Haidinger's brushes. Arch Ophthalmol 57:393–399
Hogan MJ, Alvarado JA, Weddell JE (1971) Histology of the human eye, pp 107, 159 and 427. WB Saunders, Philadelphia, London and Toronto
Jerndal T, Hansson H-A, Bill A (1978) Goniodysgenesis — a new perspective on glaucoma. Scriptor, Copenhagen
Kartagener M (1933) Zur Pathogenese der Bronchiektasien. I. Bronchiektasien bei Situs viscerum inversus. Beitr Klin Tuberk 83:489–501
Matsusaka T (1976) Cytoplasmic fibrils of the connecting cilium. J Ultrastruct Res 54:318–324
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 59:55–65
Oliver JM (1976) Impaired microtubule function correctable by cyclic AMP and cholinergic agonists in the Chediak-Higashi syndrome. Amer J Pathol 85:395–412
Radnot M, Varga M, Lovas B (1970) Les cils isolés dans les cellules mesodermales de láeil. Ann Oculist (Paris) 203:355–359
Renard G, Hirsch M, Galle P, Pouliquen Y (1976) Les cellules ciliées de l'endothelium cornéen. Arch Ophthalmol (Paris) 36:59–72
Stenström S (1946) Untersuchungen über die Variation und Kovariation der optischen Elemente des menschlichen Auges. Acta Ophthalmol Suppl 26
Svedbergh B, Bill A (1972) Scanning electron microscopic studies of the corneal endothelium in man and monkeys. Acta Ophthalmol 50:321–336
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 17:718–734
Vegge T (1963) Ultrastructure of normal human trabecular endothelium. Acta Ophthalmol 41:193–199
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 25:113–149
Young RW (1976) Visual cells and the concept of renewal. Invest Ophthalmol 15:700–725
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Svedbergh, B., Jonsson, V. & Afzelius, B. Immotile-cilia syndrome and the cilia of the eye. Albrecht von Graefes Arch Klin Ophthalmol 215, 265–272 (1981). https://doi.org/10.1007/BF00407665
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DOI: https://doi.org/10.1007/BF00407665