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Article
April 1974

CystinosisA Clinical, Histopathologic, and Ultrastructural Study

Author Affiliations

Bethesda, Md; Washington, DC; Bethesda, Md
From the Clinical Branch, National Eye Institute, National Institutes of Health, Bethesda, Md (Drs. Sanderson and Stark and Ms. Collins); the Laboratory of Vision Research, National Eye Institute, National Institutes of Health, Bethesda, Md (Dr. Kuwabara); and the Department of Ophthalmology, Georgetown University, Washington, DC (Dr. Wong). Dr. Sanderson is now with the Department of Ophthalmology, University of Iowa, Iowa City. Dr. Stark is now; with the Wilmer Eye Institute, Johns Hopkins Hospital, Baltimore. Dr. Wong is now with the Department of Ophthalmology, Georgetown University Hospital, Washington, DC.

Arch Ophthalmol. 1974;91(4):270-274. doi:10.1001/archopht.1974.03900060280006
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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