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Journal of Biomedical Optics

Optical diagnosis of a metabolic disease: cystinosis
Author(s): Elisa Cinotti; Jean Luc Perrot; Bruno Labeille; Marine Espinasse; Youcef Ouerdane; Aziz Boukenter; Gilles Thuret; Philippe Gain; Nelly Campolmi; Catherine Douchet; Frederic Cambazard
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Paper Abstract

Nephropathic cystinosis (NC) is a rare autosomal recessive storage disease characterized by the lysosomal accumulation of cystine crystals throughout the body, particularly in blood cells, the cornea, skin, kidneys, the central nervous system, and the muscles. The skin and the cornea are the most accessible sites to explore, and in vivo reflectance confocal microscopy (IVCM) helps identify crystals in both but does not provide any information to help define their composition. Raman spectroscopy (RS) allows cystine to be easily recognized thanks to its characteristic signature with a band at 499  cm −1 . Two dermatology confocal microscopes were used to visualize crystals in both the skin and the ocular surface of a cystinosis patient, and an ex vivo Raman examination of a skin biopsy and of the cornea was performed and removed during a corneal graft to confirm the cystine composition of the crystals. Recently, RS has been performed in vivo and coupled with IVCM. In the future, it is suggested that crystals in NC and other deposits in storage diseases could be identified with this noninvasive in vivo technique that combines IVCM to recognize the deposits and RS to confirm their chemical nature.

Paper Details

Date Published: 22 April 2013
PDF: 5 pages
J. Biomed. Opt. 18(4) 046013 doi: 10.1117/1.JBO.18.4.046013
Published in: Journal of Biomedical Optics Volume 18, Issue 4
Show Author Affiliations
Elisa Cinotti, Ctr. Hospitalier Univ. de Saint-Étienne (France)
Jean Luc Perrot, Ctr. Hospitalier Univ. de Saint-Étienne (France)
Bruno Labeille, Ctr. Hospitalier Univ. de Saint-Étienne (France)
Marine Espinasse, Ctr. Hospitalier Univ. de Saint-Étienne (France)
Youcef Ouerdane, Univ. Jean Monnet Saint-Etienne (France)
Aziz Boukenter, Univ. Jean Monnet Saint-Etienne (France)
Gilles Thuret, Ctr. Hospitalier Univ. de Saint-Étienne (France)
Philippe Gain, Ctr. Hospitalier Univ. de Saint-Étienne (France)
Nelly Campolmi, Ctr. Hospitalier Univ. de Saint-Étienne (France)
Catherine Douchet, Ctr. Hospitalier Univ. de Saint-Étienne (France)
Frederic Cambazard, Ctr. Hospitalier Univ. de Saint-Étienne (France)

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