May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
POSTERIOR SEGMENT MANIFESTATIONS OF INFANTILE NEPHROPATHIC CYSTINOSIS.
E.T. Tsilou; R. Caruso; B. Rubin; F. Iwata; W. Gahl; M. Kaiser–Kupfer
Author Affiliations & Notes
  • E.T. Tsilou
    Ophth Genetics & Visual Function Branch, NEI, NIH, Bethesda, MD
  • R. Caruso
    Ophth Genetics & Visual Function Branch, NEI, NIH, Bethesda, MD
  • B. Rubin
    Ophth Genetics & Visual Function Branch, NEI, NIH, Bethesda, MD
  • F. Iwata
    Ophth Genetics & Visual Function Branch, NEI, NIH, Bethesda, MD
  • W. Gahl
    Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD
  • M. Kaiser–Kupfer
    Ophth Genetics & Visual Function Branch, NEI, NIH, Bethesda, MD
  • Footnotes
    Commercial Relationships  E.T. Tsilou, None; R. Caruso, None; B. Rubin, None; F. Iwata, None; W. Gahl, None; M. Kaiser–Kupfer, None.
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 2727. doi:
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      E.T. Tsilou, R. Caruso, B. Rubin, F. Iwata, W. Gahl, M. Kaiser–Kupfer; POSTERIOR SEGMENT MANIFESTATIONS OF INFANTILE NEPHROPATHIC CYSTINOSIS. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):2727.

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Abstract

Abstract: : Purpose: Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the intracellular accumulation of cystine. A large spectrum of ocular pathology has been associated with nephropathic cystinosis. The purpose of this study was to utilize the largest cohort of patients worldwide to study the posterior segment manifestations associated with infantile nephropathic cystinosis. Methods: 193 patients (ages 2 months to 42 years) have been followed at the National Institutes of Health between 1976 and 2003. All the patients underwent a complete ophthalmic evaluation. Patients over the age of 15 years also underwent Humphrey static perimetry. When indicated and permitted electrophysiological testing was also performed. Results: Severe photophobia as well as significant anterior segment complications such as corneal opacification and posterior synechia were limiting factors for the examination of the posterior pole. Fundus examination was eventually possible in 143 patients. 114 patients had some type of retinal findings and 29 patients had a near normal ophthalmoscopic examination. The most common finding was depigmentary changes with retinal pigment epithelial mottling. Three patients had a picture resembling retinitis pigmentosa with the presence of bone spicules or pigment clumps. One patient had significant chorioretinal atrophy. 21 patients had intraretinal crystals. Of the 90 patients that underwent Humphrey static perimetry, 23 showed moderate to severe constriction. 29 patients underwent electroretinography and 17 showed evidence of moderate to severe reduction of rod and cone responses. Conclusions:Infantile nephropathic cystinosis has significant posterior segment complications that can contribute to the significant visual handicap. It remains to be seen if early initiation of oral cysteamine therapy can prevent or reduce the incidence and severity of these posterior segment complications.

Keywords: clinical (human) or epidemiologic studies: natural history • genetics • retinal degenerations: hereditary 
© 2004, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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