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 journalArticlepeer-review

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 languageEnglish (US)
Pages (from-to)270-274
Number of pages5
JournalArchives of ophthalmology
Volume91
Issue number4
DOIs
StatePublished - Apr 1974

Keywords

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

ASJC Scopus subject areas

  • Ophthalmology

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