Cystinosis: A Clinical, Histopathologic, and Ultrastructural Study

Paul O. Sanderson; Toichiro Kuwabara; Walter J. Stark; Vernon G. Wong; Eleanor M. Collins

doi:10.1001/archopht.1974.03900060280006

Cystinosis: A Clinical, Histopathologic, and Ultrastructural Study

Paul O. Sanderson, Toichiro Kuwabara, Walter J. Stark, Vernon G. Wong, Eleanor M. Collins

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

42 Scopus citations

Abstract

Maculopathy is reported for the first time in cystinosis. Two siblings were found to show a conspicuous yellow mottling of the macular region by ophthalmoscopy. In addition, there were widespread pigmentary changes in the fundi which have been previously described. Clinically, both patients also had crystalline deposits in the conjunctiva, cornea, and iris. Histopathologic and ultrastructural examination of both eyes from one patient showed degeneration and loss of the retinal pigment epithelial cells. Intracellular crystals were found in the keratocytes, iris epithelium, pigmented and nonpigmented epithelium of the ciliary body, choroid, and retinal pigment epithelium.

Original language	English (US)
Pages (from-to)	270-274
Number of pages	5
Journal	Archives of ophthalmology
Volume	91
Issue number	4
DOIs	https://doi.org/10.1001/archopht.1974.03900060280006
State	Published - Apr 1974
Externally published	Yes

Keywords

Cystinosis (nephropathic, childhood, congenital)
choroid
ciliary body
cornea
iris
maculopathy
retinal pigment epithelium
retinopathy

ASJC Scopus subject areas

Ophthalmology

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10.1001/archopht.1974.03900060280006

Cite this

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title = "Cystinosis: A Clinical, Histopathologic, and Ultrastructural Study",

abstract = "Maculopathy is reported for the first time in cystinosis. Two siblings were found to show a conspicuous yellow mottling of the macular region by ophthalmoscopy. In addition, there were widespread pigmentary changes in the fundi which have been previously described. Clinically, both patients also had crystalline deposits in the conjunctiva, cornea, and iris. Histopathologic and ultrastructural examination of both eyes from one patient showed degeneration and loss of the retinal pigment epithelial cells. Intracellular crystals were found in the keratocytes, iris epithelium, pigmented and nonpigmented epithelium of the ciliary body, choroid, and retinal pigment epithelium.",

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AU - Sanderson, Paul O.

AU - Kuwabara, Toichiro

AU - Stark, Walter J.

AU - Wong, Vernon G.

AU - Collins, Eleanor M.

PY - 1974/4

Y1 - 1974/4

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AB - Maculopathy is reported for the first time in cystinosis. Two siblings were found to show a conspicuous yellow mottling of the macular region by ophthalmoscopy. In addition, there were widespread pigmentary changes in the fundi which have been previously described. Clinically, both patients also had crystalline deposits in the conjunctiva, cornea, and iris. Histopathologic and ultrastructural examination of both eyes from one patient showed degeneration and loss of the retinal pigment epithelial cells. Intracellular crystals were found in the keratocytes, iris epithelium, pigmented and nonpigmented epithelium of the ciliary body, choroid, and retinal pigment epithelium.

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KW - ciliary body

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KW - retinopathy

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Cystinosis: A Clinical, Histopathologic, and Ultrastructural Study

Abstract

Keywords

ASJC Scopus subject areas

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