Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy

M. W. Luckenbach; W. R. Green; N. R. Miller; H. W. Moser; A. W. Clark; G. Tennekoon

doi:10.1016/S0002-9394(14)78308-4

Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy

M. W. Luckenbach, W. R. Green, N. R. Miller, H. W. Moser, A. W. Clark, G. Tennekoon

School of Medicine

Research output: Contribution to journal › Article › peer-review

42 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	369-382
Number of pages	14
Journal	Unknown Journal
Volume	95
Issue number	3
DOIs	https://doi.org/10.1016/S0002-9394(14)78308-4
State	Published - 1983

ASJC Scopus subject areas

Ophthalmology

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10.1016/S0002-9394(14)78308-4

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title = "Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy",

abstract = "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.",

author = "Luckenbach, {M. W.} and Green, {W. R.} and Miller, {N. R.} and Moser, {H. W.} and Clark, {A. W.} and G. Tennekoon",

note = "Funding Information: From the Eye Pathology Laboratory, Wilmer Ophthalmological Institute (Drs. Luckenbach, Green, and Miller), the John F. Kennedy Institute (Dr. Moser), and the Departments of Pathology (Drs. Green and Clark) and Neurology (Dr. Tennekoon), Johns Hopkins Medical Institutions, Baltimore, Maryland. This study was supported in part by the Pearl S. Stetter Research Fund (Dr. Luckenbach) and Research Grant 01684 from the National Eye Institute (Dr. Green).",

year = "1983",

doi = "10.1016/S0002-9394(14)78308-4",

language = "English (US)",

volume = "95",

pages = "369--382",

journal = "Unknown Journal",

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T1 - Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy

AU - Luckenbach, M. W.

AU - Green, W. R.

AU - Miller, N. R.

AU - Moser, H. W.

AU - Clark, A. W.

AU - Tennekoon, G.

N1 - Funding Information: From the Eye Pathology Laboratory, Wilmer Ophthalmological Institute (Drs. Luckenbach, Green, and Miller), the John F. Kennedy Institute (Dr. Moser), and the Departments of Pathology (Drs. Green and Clark) and Neurology (Dr. Tennekoon), Johns Hopkins Medical Institutions, Baltimore, Maryland. This study was supported in part by the Pearl S. Stetter Research Fund (Dr. Luckenbach) and Research Grant 01684 from the National Eye Institute (Dr. Green).

PY - 1983

Y1 - 1983

N2 - 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.

AB - 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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Ocular clinicopathologic correlation of Hallervorden-Spatz syndrome with acanthocytosis and pigmentary retinopathy

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