The ocular pathology of Type A Niemann-Pick disease A light and electron microscopic study

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Abstract

Niemann-Pick disease, a disorder of sphingomyelin metabolism due to lack of the enzyme sphingomyelinase, has been known for many years to cause storage of sphingomyelin and cholesterol in brain and abdominal viscera. A cherry-red spot has indicated retinal involvement, as toell. The present pathologic findings in the eyes of a patient with Type A Niemann-Pick disease confirm recent clinical impressions of more widespread ocular involvement. Sphingolipid storage in corneal stroma and endothelium and lens epithelium offers an explanation for the subtle opacities seen in these structures clinically. The further involvement of iris sphincter muscle, ciliary epithelium, retinal pigment epithelium, and vascular endothelium has no recognized clinical counterpart, but is consistent with the normal wide distribution of sphingomyelin as a constituent of cytoplasm and cell membranes in animal tissues