January 1982
Volume 22, Issue 1
Free
Articles  |   January 1982
Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease).
Investigative Ophthalmology & Visual Science January 1982, Vol.22, 25-31. doi:https://doi.org/
  • Views
  • PDF
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      K S Pokorny, R Ritch, A H Friedman, R J Desnick; Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease).. Invest. Ophthalmol. Vis. Sci. 1982;22(1):25-31. doi: https://doi.org/.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
This content is PDF only. Please click on the PDF icon to access.
Abstract

Type II glycogenosis is an autosomal recessive storage disease characterized by absence of the enzyme acid alpha-1,4-glucosidase. The eye of a 16 week fetus, aborted after diagnosis by amniocentesis, was studied by light and electron microscopy. Extensive deposits of lysosomal and cytoplasmic glycogen were present in virtually all ocular tissues examined, with the notable exception of pigment epithelia (iris and retina). The massive glycogen deposits present in this, the youngest case thus far examined histologically, emphasize the involvement of the fetus from its earliest stages and the importance of prenatal diagnosis.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×