Skip to main content
SpringerLink
Log in

Hereditary vitreoretinal dystrophy associated with peripheral neuropathy

  • Clinical Investigations
  • Published:
Graefe's Archive for Clinical and Experimental Ophthalmology Aims and scope Submit manuscript

Abstract

Autosomal dominant inherited vitreoretinal dystrophy has been reported to occur as an isolated ocular disease (Wagner's disease) or in combination with systemic manifestations (e.g., Stickler's syndrome). We examined five members of one family (three generations) and found vitreoretinal dystrophy and non-ocular signs in a mother and her two children. In the mother we also observed tractional detachment of the macula. In addition to routine ophthalmological examinations, we performed electrophysiological tests (ERG, EOG), adaptometry and magnetic resonance imaging of the head. Neurological examination revealed peripheral neuropathy in the mother and her children. We had no evidence that the neuropathy had a toxic or metabolic origin, and other genetically determined neuropathies were unlikely based on the clinical picture, MRI, and laboratory tests. Therefore, the neuropathy might be either a hitherto unrecognized feature of a variant of Stickler's syndrome or part of a yet unclassified hereditary vitreoretinal dystrophy with systemic involvement.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ (1991) Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 88:6624–6627

    Google Scholar 

  2. Alexander RL, Shea M (1965) Wagner's disease. Arch Ophthalmol 74:310–318

    Google Scholar 

  3. Arden GB, Barrada A, Kelsey JH (1962) New clinical test of retinal function based upon the standing potential of the eye. Br J Ophthalmol 46:449–467

    Google Scholar 

  4. Balazs EA, Denlinger JL (1984) The vitreous. In: Davson H (ed) The eye, vol IA. Academic Press, London, pp 533–589

    Google Scholar 

  5. Baldellou A, Rodriguez M, Tamparillas M, Sanjuan P, Solsona P (1991) On the occurrence of BBB syndrome and hereditary sensory motor neuropathy in the same family. Genet Couns 2:255–257

    Google Scholar 

  6. Balen ATM van, Falger ELF (1970) Hereditary hyaloideo-retinal degeneration and palatoschisis. Arch Ophthalmol 83:152–162

    Google Scholar 

  7. Blair NP, Albert DM, Lieberfarb RM, Hirose T (1979) Hereditary progressive arthroophthalmopathy of Stickler. Am J Ophthalmol 88:876–888

    Google Scholar 

  8. Böhringer HR, Dieterle P, Landolt E (1960) Zur Klinik und Pathologie der Degeneratio hyaloideo-retinalis hereditaria (Wagner). Ophthalmologica 139:330–333

    Google Scholar 

  9. Brown DM, Nichols BE, Weingeist TE, Sheffield VC, Kimura AE, Stone EM (1992) Procollagen II gene mutation in Stickler syndrome. Arch Ophthalmol 110:1589–1593

    Google Scholar 

  10. Erikson A (1974) Hereditary syndrome consisting in recurrent attacks resembling brachial plexus neuritis, special facial features, and cleft palate. Acta Paediatr Scand 63:885–888

    Google Scholar 

  11. Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE (1987) The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics 1:293–296

    Google Scholar 

  12. Gardner JH, Maloney W (1968) Hereditary brachial and cranial neuritis genetically linked with ocular hypotelorism and syndactyly. Neurology 18:278

    Google Scholar 

  13. Godel V, Nemet P, Lazar M (1981) The Wagner-Stickler syndrome complex. Doc Ophthalmol 52:179–188

    Google Scholar 

  14. Graemiger RA, Niemayer G, Schneeberger SA, Messmer EP (1993) Wagner's disease: follow-up examination of Wagner's original pedigree. Inv Ophthalmol Vis Sci [Suppl] 34/4:1211

    Google Scholar 

  15. Herrman J, France T, Spranger J, Opitz J (1975) The Stickler syndrome (Hereditary arthroophthalmopathy). Birth Defects 11:77–103

    Google Scholar 

  16. Hirose T, Lee KY, Schepens CL (1973) Wagner's hereditary vitreo-retinal degeneration and retinal detachment. Arch Ophthalmol 89:176–185

    Google Scholar 

  17. Hirose T, Lee KY, Schepens CL (1974) Snowflake degeneration in hereditary vitreo-retinal degeneration. Am J Ophthalmol 77:143–153

    Google Scholar 

  18. Jansen LMAA (1962) Degeneratio hyaloideo-retinalis hereditaria. Ophthalmologica 144:458–464

    Google Scholar 

  19. Knobloch WH (1976) Inherited hyaloideoretinopathy and sceletal dysplasia. Trans Am Ophthal Soc 73:413–418

    Google Scholar 

  20. Knobloch WH, Layer JM (1972) Clefting syndromes associated with retinal detachment. Am J Ophthalmol 73:517–530

    Google Scholar 

  21. Knowlton RG, Weaver EJ, Struyk AF, Knobloch WH, King RA, Norris K, Shamban A, Uitto J, Jimenez SA, Prockop DJ (1989) Genetic linkage analysis of hereditary arthroophthalmopathy (Stickler syndrome) and the type II procollagen gene. Am J Hum Genet 45:681–688

    Google Scholar 

  22. Lisch W (1983) Hereditary vitreoretinal degenerations. In: Straub W (ed) Developments in Ophthalmology, vol 8. Karger, Basel, pp 39–51

    Google Scholar 

  23. Lisch W, Ullerich K (1978) Degeneratio hyaloideoretinalis hereditaria Wagner. Klin Monatsbl Augenheilkd 173:774–785

    Google Scholar 

  24. Marmor MF, Arden GB, Nilsson SEG, Zrenner E (1989) Standard for clinical electroretinography. Arch Ophthalmol 107:816–819

    Google Scholar 

  25. Maumenee IH (1979) Vitreoretinal degeneration as a sign of generalized connective tissue diseases. Am J Ophthalmol 88:432–449

    CAS  PubMed  Google Scholar 

  26. Opitz JM, Frias JL, Gutenberger JE, Pellet JR (1969) The BBB syndrome: familial telecanthus with associated congenital anomalies. Birth Defects (Orig Art Ser) 5:86–94

    Google Scholar 

  27. Opitz JM, France T, Herrmann J, Spranger JW (1972) The Stickler syndrome. N Engl J Med 9:546

    Google Scholar 

  28. Pinckers A, Jansen LMAA (1974) Wagner's syndrome (degeneratio hyaloideo-retinalis hereditaria). Doc Ophthalmol 37:245–259

    Google Scholar 

  29. Prockop DJ, Kivirikko KI, Tudermann L, Guzmann NA (1979) The biosynthesis of collagen and its disorders. N Engl J Med 301:77–85

    Google Scholar 

  30. Regenbogen L, Godel V (1980) Hereditary vitreoretinal degeneration, cleft lip and palate, deafness and skeletal dysplasia. Am J Ophthalmol 89:414–418

    Google Scholar 

  31. Robertson JE, Meyer SM (1989) Hereditary vitreoretinal degenerations. In: Ryan SJ, Ogden TE, ed. Retina, vol 1. Mosby, St Louis, pp 469–479

    Google Scholar 

  32. Saksena SS, Bixler D, Yu P (1983) Stickler syndrome: a cephalometric study of the face. J Craniofac Genet Dev Biol 3:19–28

    Google Scholar 

  33. Sebag J (1989) The vitreous: function and pathobiology. Springer, New York Berlin Heidelberg, pp 17–95

    Google Scholar 

  34. Spallone A (1987) Stickler's syndrome: a study of 12 families. Br J Ophthalmol 71: 504–509

    Google Scholar 

  35. Stickler GB, Pugh DG (1967) Hereditary progressive arthro-ophthalmopathy. 2. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clin Proc 42:495–500

    Google Scholar 

  36. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, Ward CE (1965) Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 40:433–455

    Google Scholar 

  37. Stratton RF, Lee B, Ramirez F (1991) Marshall syndrome. Am J Med Genet 41:35–38

    Google Scholar 

  38. Temple IK (1989) Stickler's syndrome. J Med Genet 26:119–126

    Google Scholar 

  39. Vintiner GM, Temple IK, Middleton-Price HR, Baraitser M, Malcolm S (1991) Genetic and clinical heterogeneity of Stickler syndrome. Am J Med Genet 41:44–48

    Google Scholar 

  40. Von der Mark K, Von der Mark H, Timpl R (1977) Immunofluorescent localization of the collagen types I, II and III in the embryonic chick eye. Dev Biol 59:75–85

    Google Scholar 

  41. Wagner H (1938) Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zürich. Klin Monatsbl Augenheilkd 100:840–857

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Ophthalmology, University of Innsbruck, Anichstr. 35, A-6020, Innsbruck, Austria

    A. Ettl, C. Kunze, A. Daxer & W. Göttinger

  2. Department of Neurology, University of Innsbruck, Anichstr. 35, A-6020, Innsbruck, Austria

    S. Felber & C. Schmidauer

  3. Department of Magnetic Resonance Tomography, University of Innsbruck, Anichstr. 35, A-6020, Innsbruck, Austria

    S. Felber

  4. Institut for Medical Biology and Human Genetics, University of Innsbruck, Anichstr. 35, A-6020, Innsbruck, Austria

    B. Utermann

Authors
  1. A. Ettl
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. C. Kunze
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A. Daxer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. W. Göttinger
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. S. Felber
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. C. Schmidauer
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. B. Utermann
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ettl, A., Kunze, C., Daxer, A. et al. Hereditary vitreoretinal dystrophy associated with peripheral neuropathy. Graefe's Arch Clin Exp Ophthalmol 232, 330–336 (1994). https://doi.org/10.1007/BF00175984

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00175984

Keywords

Search

Navigation