Ocular complications are among the most common cause of discomfort and disability in patients with cystinosis, affecting virtually all individuals with nephropathic cystinosis if left untreated. Photophobia results from accumulation of cystine crystals within the corneal tissue. Compliance with recommended therapy can reverse this change, resulting in resolution of symptoms. Other ocular struct...

The project has progressed according to the original research plan with the most significant findings detailed in Aim 2 demonstrating the anti-fibrotic potential of cysteamine. Current efforts are focused on the investigating the effect of cysteamine on myofibroblasts, the primary cell producing extracellular matrix during kidney fibrosis. Furthermore, in our investigation of fibrogenic mechani...

Background: In earlier studies, we found that children and adults with nephropathic cystinosis often have significant difficulty with visual spatial skills, and that this in turn can lead to academic difficulties, particularly with math. Earlier studies by Bernhard and Major (2005) and Temple et al. (2003) had demonstrated that a computerized program of gradually increasing difficulty could hel...