Research Papers: Imaging

Optical diagnosis of a metabolic disease: cystinosis

[+] Author Affiliations
Elisa Cinotti, Jean Luc Perrot, Bruno Labeille, Frédéric Cambazard

University Hospital of St-Etienne, Department of Dermatology, 42055 Saint Etienne Cedex 2, France

Marine Espinasse, Gilles Thuret, Philippe Gain, Nelly Campolmi

University Hospital of St-Etienne, Department of Ophthalmology, 42055 Saint Etienne Cedex 2, France

Corneal Graft Biology, Engineering and Imaging Laboratory, EA2521, Federative Institute of Research in Sciences and Health Engineering, France

Youcef Ouerdane, Aziz Boukenter

Université Jean Monnet, Laboratoire Hubert Curien, CNRS UMR-5516, 42000 Saint Etienne, France

Catherine Douchet

University Hospital of St-Etienne, Department of Pathology, 42055 Saint Etienne Cedex 2, France

J. Biomed. Opt. 18(4), 046013 (Apr 22, 2013). doi:10.1117/1.JBO.18.4.046013
History: Received December 19, 2012; Revised February 26, 2013; Accepted March 19, 2013
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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 499cm1. 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.

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© 2013 Society of Photo-Optical Instrumentation Engineers

Citation

Elisa Cinotti ; Jean Luc Perrot ; Bruno Labeille ; Marine Espinasse ; Youcef Ouerdane, et al.
"Optical diagnosis of a metabolic disease: cystinosis", J. Biomed. Opt. 18(4), 046013 (Apr 22, 2013). ; http://dx.doi.org/10.1117/1.JBO.18.4.046013


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