Slide 9-39

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    Appears in
    Unit 09 Pathology of the Retina
    Condition/keywords
    Type Ill systemic mucopolysaccharidosis, Sanfilippo syndrome, retinal pigment epithelium
    Description
    Type Ill systemic mucopolysaccharidosis (San Filippo syndrome). The retinal pigment epithelium contains excessive mucopolysaccharide (upper left: colloidal iron), which corresponds to vacuoles seen by phase-contrast(upper right) and to vacu­oles with a fibrillogranular material as seen by electron microscopy (lower views). There is also degeneration of the outer segments of the photoreceptor cells and thinning of the outer nuclear layer of the retina (upper right and lower left}.

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