Dr. Nikita Goel, Dr. Sahil Sharma, Dr. Rohit Dureja, Dr. Tanvi Choudhary


Cystinosis is a rare autosomal recessive disorder characterized by the intracellular accumulation of disulphide of the
aminoacid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe type. Although renal
disease is the most prominent feature of cystinosis the corneal cysteine crystal formation remains a major complication leading to photophobia,
corneal erosion and keratopathy. Corneal crystal accumulation and pigmentary retinopathy were originally the most commonly described
ophthalmic manifestation but successful kidney transplantation signicantly changed the natural history of the disease. A case of a 9 year old boy
diagnosed with nephrotic cystinosis was reported. He developed renal proximal tubulopathy (or fanconi syndrome) at 7 months of age and then
uprogressed to end stage renal disease. He presented with severe photophobia and decreased visual acuity. Ocular cystinosis was diagnosed on
observing the typical crystals in cornea. OCT showed multiple areas of stromal hyperreectivity due to crystal deposits within the cornea.

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