Skip to main content
SpringerLink
Log in

Manifestation of infantile GM1 gangliosidosis in the fetal eye

An electron microscopic study

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

Abstract

GM1 gangliosidosis in the infantile form is a rapidly fatal storage disease produced by deficiency of acid β-galactosidase. Ultrastructural studies of the eyes from two fetuses affected with GM1 gangliosidosis were performed in an effort to assess tissue-specific distribution of storage inclusions in the different ocular components derived from neuroectoderm, surface ectoderm, and mesoderm. Two major configurations of inclusions were observed: electron-lucent vacuoles and pleiomorphic osmiophilic membranes. Although the latter changes mainly affected the retinal neurons, they were occasionally found in cells of epithelial and mesenchymal origin. The findings indicate that the lysosomal storage process in GM1 gangliosidosis, type 1, has a wide morphologic spectrum that is already present in the early period of fetal life.

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. Adachi M, Schneck L, Volk BW (1978) Progress in investigation of sphingolipidoses. Acta Neuropathol (Berl) 43: 1–18

    Google Scholar 

  2. Derry DM, Fawcett JS, Andermann F, Wolfe LS (1968) Late infantile systemic lipidosis. Major monosialogangliosidosis delineation of two types. Neurology 18: 340–348

    PubMed  Google Scholar 

  3. Goebel HH (1984) Morphology of the gangliosidoses. Neuropediatrics [Suppl] 15: 97–106

    PubMed  Google Scholar 

  4. Goebel HH, Fix JD, Zeman W (1973) Retinal pathology in GM1 gangliosidosis type II. Am J Ophthalmol 75: 434–441

    PubMed  Google Scholar 

  5. Harzer K, Zahn V, Stengel-Rutkowsky S, Gley E-O (1975) Pränatale Diagnose der metachromatischen Leukodystrophie. Dtsch Med Wochenschr 100: 951–953

    PubMed  Google Scholar 

  6. Johnston MC (1966) A radioautographic study of the migration and fate of cranial neural crest cells in the chick embryo. Anat Rec 156: 143–156

    PubMed  Google Scholar 

  7. Johnston MC, Noden DM, Hazelton RD, Coulombre JL, Coulombre AJ (1979) Origins of avian ocular and periocular tissues. Exp Eye Res 29: 27–43

    PubMed  Google Scholar 

  8. Kaback MM, Sloan HR, Sonneborn M, Herndorn RM, Percy AK (1973) GM1 gangliosidosis type I: in utero detection and fetal manifestations. J Pediatr 82: 1037–1041

    PubMed  Google Scholar 

  9. Klenk E (1942) Über die Gangliosidose des Gehirns bei infantiler amaurotischer Idiotie vom Typ Tay-Sachs. Ber Dtsch Chem Ges 75: 1632–1636

    Google Scholar 

  10. Landing BH, Silverman FN, Craig JM, Jacoby MD, Labey ME, Chadwig DL (1964) Familial neurovisceral lipidosis. Am J Dis Child 108: 503–512

    PubMed  Google Scholar 

  11. Lowden JA, Cutz E, Conen PE, Rudd N, Dora TA (1973) Prenatal diagnosis of GM1 gangliosidosis. N Engl J Med 288: 225–228

    PubMed  Google Scholar 

  12. Norman RM, Urich H, Tingey AH, Goodbody RA (1959) Tay-Sachs disease with visceral involvement and its relationship to Nieman-Pick disease. J Pathol Bacteriol 78: 409–421

    PubMed  Google Scholar 

  13. O'Brien JS (1983) The gangliosidoses. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 954–968

    Google Scholar 

  14. Rahman H, Probst W, Mühleisen M (1982) Gangliosidoses and synaptic transmission. Jpn J Exp Med 52: 275–286

    PubMed  Google Scholar 

  15. Spycher MA (1980) Electron microscopy: a method for the diagnosis of inherited metabolic storage diseases. Pathol Res Pract 167: 118–135

    PubMed  Google Scholar 

  16. Terry RD (1971) Some morphologic aspects of lipidoses. In: Bernsohn J, Grossman HJ (eds) Lipid storage diseases. Academic Press, New York, pp 3–20

    Google Scholar 

  17. Terry RD, Weiss M (1963) Studies on Tay-Sachs disease. II. Ultrastructure of the cerebrum. J Neuropathol Exp Neurol 22: 18–55

    PubMed  Google Scholar 

  18. Torczynski E, Jacobiec FA, Johnston MC, Font RL, Madewell JA (1977) Synophthalmia and cyclopia: a histopathologic, radiographic, and organogenetic analysis. Doc Ophthalmol 44: 311–378

    PubMed  Google Scholar 

  19. Wenger DA, Sattler M, Mueller OT, Myers GO, Schneiman RS, Nixon GW (1980) Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis. Clin Genet 17: 323–334

    PubMed  Google Scholar 

  20. Yamano T, Shimada M, Okada S, Yutaka T, Kato T, Inui K, Yabuuchi H, Kanzaki S, Kanda S (1983) Ultrastructural study of nervous system of two fetuses with GM1 gangliosidosis type 1. Acta Neuropathol (Berl) 61: 15–20

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Abteilung für Pathologie, Universität Düsseldorf, Moorenstrasse 5, D-4000, Düsseldorf 1, Federal Republic of Germany

    A. Schmitt-Gräff

Authors
  1. A. Schmitt-Gräff
    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

Schmitt-Gräff, A. Manifestation of infantile GM1 gangliosidosis in the fetal eye. Graefe's Arch Clin Exp Ophthalmol 226, 84–88 (1988). https://doi.org/10.1007/BF02172724

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02172724

Keywords

Search

Navigation