Long-term ocular manifestations in nephropathic cystinosis
M. I. Kaiser-Kupfer, R. C. Caruso, D. S. Minkler and W. A. Gahl
Eight nephropathic-cystinotic patients having undergone renal
transplantation seven to 14 years previously were studied. Serious ocular
complications were noted in four of the eight cases not previously
reported. These included posterior synechiae, deposition of crystals on the
anterior lens surface, and decreased visual acuity accompanied by impaired
visual function, as measured by psychophysical and electrodiagnostic tests
when possible.
Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy
Gahl et al.
ANN INTERN MED 2007;147:242-250.
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A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis
Tsilou et al.
Br. J. Ophthalmol. 2003;87:28-31.
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Follow-up and treatment of adults with cystinosis in the Netherlands
Geelen et al.
Nephrol Dial Transplant 2002;17:1766-1770.
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Cystinosis: Antibodies and Healthy Bodies
Kleta and Gahl
J. Am. Soc. Nephrol. 2002;13:2189-2191.
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Cystinosis
Gahl et al.
NEJM 2002;347:111-121.
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Pulmonary Dysfunction in Adults With Nephropathic Cystinosis
Anikster et al.
Chest 2001;119:394-401.
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Ultrasound Biomicroscopy of the Eye in Cystinosis
Mungan et al.
Arch Ophthalmol 2000;118:1329-1333.
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The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion
Touchman et al.
Genome Res. 2000;10:165-173.
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Improved Renal Function in Children with Cystinosis Treated with Cysteamine
Markello et al.
NEJM 1993;328:1157-1162.
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