Manifestation of infantile GM1 gangliosidosis in the fetal eye: an electron microscopic study

GM1 gangliosidosis in the infantile form is a rapidly fatal storage disease produced by deficiency of acid beta-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 inclusion...

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Bibliographic Details
Published in:Graefe's archive for clinical and experimental ophthalmology 1988, Vol.226 (1), p.84-88
Main Author: SCHMITT-GRÄFF, A
Format: Article
Language:English
Subjects:
Biological and medical sciences
Diagnosis, Differential
Errors of metabolism
Eye - embryology
Eye - ultrastructure
Female
Fetal Diseases - pathology
G(M1) Ganglioside
Gangliosidoses - diagnosis
Gangliosidoses - pathology
Humans
Lipids (lysosomal enzyme disorders, storage diseases)
Medical sciences
Metabolic diseases
Microscopy, Electron
Pregnancy
Pregnancy Trimester, Second
Tay-Sachs Disease - diagnosis
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Summary:GM1 gangliosidosis in the infantile form is a rapidly fatal storage disease produced by deficiency of acid beta-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: electronlucent 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.
ISSN:0721-832X
1435-702X
DOI:10.1007/BF02172724