Ocular Pathology of Infantile Niemann-Pick Disease

Niemann-Pick Disease—Type C

“…Findings have included ballooned lipid-laden retinal ganglion cells, vacuolated cells in the inner and outer nuclear layers, edema of the outer plexiform layer, and vacuolated cells within the cho¬ roid. 18 Our patient was three years older than the child in the Emery et al report. A more whorled and regular appearance was noted within retinal ganglion cells.…”

“…It is also a major lipid of the myelin sheath and the stroma of RBCs 18. There are also structures of light-staining granular material with peripheral zone of darkly staining granular materials (arrowheads) that probably are dilated cisternae of rough endoplasmic reticulum.…”

Ocular ultrastructural study in a fetus with type II glycogenosis.

“…x 16 000) and resulted in the therapeutic abortion of a fetus with type II glycogenosis. This biochemical technique is now widely used for the prenatal diagnosis of lysosomal diseases and allowed histopathological and biochemical analysis of affected fetal tissues (Adachi et al, 1974;Schneider et al, 1972), including the eyes (Howes et al, 1975). In our case these investigations indicated the early lysosomal storage of glycogen in skeletal muscles, liver, Schwann cells of peripheral nerves, skin, kidney, and to a much less extent in heart and central nervous system, strictly paralleling, although at a much earlier age, our previous findings in the affected sibling thought to represent a childhood phenotype rather than a classical example of Pompe disease (Martin et al, 1976).…”