Work

Ocular ultrastructural study in a fetus with type II glycogenosis.

Year: 1977

Type: article

Abstract: The general pathological and ocular studies in an aborted fetus with type II glycogenosis revealed the widespread lysosomal storage of glycogen. Obvious lesions are observed in the viscera, in the skeletal and ocular muscles, and in all ocular tissues except the pigment epithelium of the retina. Brain and heart are relatively spared. Conjunctival and skin biopsies have a diagnostic importance, since specific alterations are evident early in the course of the disease.

Source: British Journal of Ophthalmology

DOI: 10.1136/bjo.61.7.476

Authors: J. Libert, J. J. Martin, C. Ceuterick, P. Danis

Institutions: Université Libre de Bruxelles, University of Antwerp, Vrije Universiteit Brussel

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Université Catholique de Louvain