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Manifestation of infantile GM1 gangliosidosis in the fetal eye

An electron microscopic study
  • A. Schmitt-Gräff
Original Investigations

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.

Keywords

Fatal Storage Retinal Neuron Storage Process Mesenchymal Origin Infantile Form 
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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Copyright information

© Springer-Verlag, Berlin Heidelberg 1988

Authors and Affiliations

  • A. Schmitt-Gräff
    • 1
  1. 1.Abteilung für PathologieUniversität DüsseldorfDüsseldorf 1Federal Republic of Germany

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