TY - JOUR T1 - Corneal cystine crystals in cystinosis JF - Archives of Disease in Childhood JO - Arch Dis Child DO - 10.1136/archdischild-2016-312456 SP - archdischild-2016-312456 AU - Chen Ling AU - Xiaorong Liu AU - Zhi Chen AU - Yeping Jiang AU - Jianfeng Fan AU - Qun Meng AU - Qian Fu AU - Jifeng Yu Y1 - 2017/03/21 UR - http://adc.bmj.com/content/early/2017/03/21/archdischild-2016-312456.abstract N2 - A 7-year-old girl presented with polyuria and developmental delay. She had previously been diagnosed with secondary Fanconi syndrome and cystinosis, at the age of 4 years, but her parents did not comply with cysteamine treatment. Physical examination revealed severe growth failure and genu valgum. Venous blood gas analysis indicated metabolic acidosis. Urine analysis indicated glucosuria and proteinuria, with a urine pH of 5.5. Slit-lamp examination showed moderate corneal oedema and multiple crystal deposits in both eyes (figure 1). The diagnosis was … ER -