GM1 Gangliosidosis, type 2: ocular clinicopathologic correlation

L. J. Cairns, W. R. Green, H. S. Singer

Research output: Contribution to journalArticle

Abstract

The clinical and pathological manifestations of a case of juvenile GM1 gangliosidosis are presented and the pathological findings compared with those previously reported for GM1 gangliosidosis in man and in animal models. The most striking finding in the present case was the marked degeneration of the retinal ganglion cell and nerve fiber layers. Although such extensive ganglion cell loss was not observed in any of the other cases reviewed, the presence of multimembranous inclusion bodies in retinal ganglion cells strongly suggests that the pathological process was similar in all cases. Much remains to be learned about the function of gangliosides in the healthy retina and about the pathophysiological consequences of deranged ganglioside metabolism. The many parallels, including those observed in pathological studies, between the human and animal forms of GM1 gangliosidosis allow an optimistic appraisal of the value of further research using the animal models.

Original languageEnglish (US)
Pages (from-to)51-62
Number of pages12
JournalGraefe's Archive for Clinical and Experimental Ophthalmology
Volume222
Issue number2
DOIs
StatePublished - Nov 1 1984

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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