The ultrastructure of the retina in adult metachromatic leukodystrophy

American Journal of Ophthalmology
H H GoebelH Pilz

Abstract

A 46-year-old woman afflicted with biochemically proven metachromatic leukodystrophy had only mild optic atrophy shortly before her death. Repeated earlier ophthalmoscopic examinations had not revealed any retinal abnormalities. Light microscopy of the retina showed strong acid phosphatase activity in both enlarged ganglionic cells and pigment epithelial cells. Demyelination of both optic nerves was not noted. Ultrastructurally, membranous lysosomal residual bodies were confined to ganglionic cells. We found lipofuscin material in pigment epithelial cells, but also within metachromatic leukodystrophy-specific residual bodies of ganglionic cells. The presence of lipofuscin represents the "wear-and-tear" phenomenon, possibly enhanced by the metachromatic leukodystrophy.

References

Jan 1, 1970·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·D G CoganH Moser
Mar 1, 1973·American Journal of Ophthalmology·H H GoebelW Zeman
Apr 15, 1971·The New England Journal of Medicine·J S O'Brien
Apr 1, 1968·Archives of Ophthalmology·D G Cogan, T Kuwabara
Oct 1, 1966·Journal of Neuropathology and Experimental Neurology·A GrégoireP Dustin
Sep 1, 1960·Brain : a Journal of Neurology·R M NORMANA H TINGEY

Citations

Mar 1, 1993·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·I U ScottH Moser
Jan 1, 1983·Survey of Ophthalmology·S Hayasaka
Jun 1, 1979·Experimental Eye Research·S HaraK Mizuno
Sep 1, 1980·Arquivos de neuro-psiquiatria·L C WerneckI Bruck
Nov 21, 2017·Translational Science of Rare Diseases·Carlos R Ferreira, William A Gahl

Related Concepts

Acid Phosphatase
Ganglia
Gangliosidoses
Arylsulfatase A Deficiency
Lipofuscin
Lysosomes
Macrophage
Pigment Epithelium of Eye
Retina
Schwann Cells

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