Depending on the severity of mutations affecting the CTNS gene, there is three major clinical presentations of the cystinosis disease: the infantile nephropathic form (MIM: 219800), the juvenile nephropathic form (MIM: 219900), and the ocular non-nephropathic form (MIM: 219750) [4–6]. The gene discussed is CTNS; the disease is cystinosis.