Clinicopathological features of ocular cystinosis.

A 31-year-old woman who presented with photophobia was found to have bilateral corneal and conjunctival crystal deposition. Ocular cystinosis was diagnosed upon observation of typical crystals and lack of systemic involvement. In vivo confocal microscopy confirmed crystal deposition of the corneas and conjunctivae bilaterally. Optical coherence tomography showed stromal hyper-reflectivity due to crystals within the corneal stroma. Transmission electron microscopy of the conjunctiva demonstrated pathognomonic intralysosomal cystine crystals inside fibroblasts and macrophages. Clinicopathological characteristics of ocular cystinosis are well described by this exceptional case.