English

Abstract

Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by the intracellular accumulation of cystine crystal in various organs. Three forms have been described infantile, adolescent and adult. Cystinosis is diagnosed by the presence of typical cystine crystals in the cornea on slit-lamp examination or the 50 to 100 fold elevated levels of free, non-protein cystine within polymorphonuclear leucocytes or cultured fibroblasts. We report a 10 yr old female who presented with infantile form of cystinosis.