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Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy.
American Journal of Ophthalmology 1983 March
We studied the eyes of a 10-year-old girl with retinal degeneration, acanthocytosis, and normal betalipoprotein levels. The ophthalmoscopic pattern was characterized initially by a flecked retina and later by bone-spicule formation and "bull's-eye" annular maculopathy. On ultrastructural study, the retinal pigment epithelium varied in size and contained large, round single-membrane-bound aggregates composed of complex melanolipofuscin granules. Cells that had migrated into the outer retinal layers contained similar melanolipofuscin aggregates; these cells were identified as macrophages and correlated with the flecks and macular annulus seen on ophthalmoscopy. The cells around the retinal blood vessels contained normal melanin pigment, were identified as retinal pigment epithelial cells, and correlated with the bone spicule pigmentation found on ophthalmoscopic examination.
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