Cystinosis

Abstract

The literature relating to cystinosis (cystine storage disease or Lignac's disease) is reviewed. A case of cystinosis in a girl dying of uraemia at the age of 7 1/2 years is described. The diagnosis had been suggested during life by the finding of crystalline deposits in the corneae. Changes in the retinae are also described. A description of the clinical features of the condition is given and the aetiology briefly discussed. The treatment of the disorder is of little value and the prognosis hopeless. It is felt that although cystinosis is undoubtedly very uncommon, cases are probably overlooked because the condition is not borne in mind.