Cystinosis

Research from V. Kalatzis and co-authors yields new data on cystinosis

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"The eye is one of the first organs affected (corneal lesions and photophobia in the first and visual impairment in the second decade of life). We characterized the ocular anomalies of Ctns(-/-) mice to determine whether they mimic those of patients. The most dramatic cystine accumulation was seen in the iris, ciliary body, and cornea of Ctns(-/-) mice. Consistently, Ctns(-/-) mice had a low intraocular pressure (IOP) and seemed mildly photophobic. Retinal cystine levels were elevated but increased less dramatically with age. Consistently, the retina was intact and electroretinogram (ERG) profiles were normal in mice younger than 19 mo; beyond this age, retinal crystals and lesions appeared. Finally, the lens contained the lowest cystine levels and crystals were not seen. The temporospatial pattern of cystine accumulation in Ctns(-/-) mice parallels that of patients and validates the mice as a model for the ocular anomalies of cystinosis," wrote V. Kalatzis and colleagues.

The researchers concluded: "This work is a prerequisite step to the testing of novel ocular cystine-depleting therapies."

Kalatzis and colleagues published their study in Pediatric Research (The ocular anomalies in a cystinosis animal model mimic disease pathogenesis. Pediatric Research, 2007;62(2):156-162).

For more information, contact V. Kalatzis, IGMM, CNRS, UMR 5535, 1919 Route Mende, F-34293 Montpellier, France.

Publisher contact information for the journal Pediatric Research is: International Pediatric Research Foundation, Inc., 351 West Camden St., Baltimore, MD 21201-2436, USA.

Keywords: France, Montpellier, Cystinosis, Pediatric Research.

This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.