Pigmentary maculopathy in a patient with cystinosis

Abstract

Cystinosis is a rare autosomal recessive lysosomal storage disorder. It is characterized by the intracellular accumulation of cystine. The gene for nephropathic cystinosis has been mapped to chromosome 17p13. Corneal and conjunctival crystals are the most common anterior segment findings while hypopigmentation of retina pigment epithelium in the periphery and macular pigmentary changes are the most common fundus findings in the disease. Corneal crystals cause intense photophobia and blepharospasm. Two forms of the cystinosis were defined: nephropathic (infantile-juvenile) and non- nephropathic. In this study, we present the macular pigmentary changes in a patient with infantile nefrophatic cystinosis.