Clinicopathological features of ocular cystinosis

Clin Exp Ophthalmol. 2008 Nov;36(8):778-81. doi: 10.1111/j.1442-9071.2008.01886.x.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Conjunctiva / ultrastructure
  • Corneal Diseases / diagnosis
  • Corneal Diseases / etiology
  • Corneal Diseases / physiopathology
  • Corneal Stroma / ultrastructure
  • Cystine / metabolism
  • Cystinosis / complications
  • Cystinosis / diagnosis
  • Cystinosis / physiopathology*
  • Diagnosis, Differential
  • Female
  • Humans
  • Microscopy, Confocal
  • Microscopy, Electron, Transmission
  • Photophobia
  • Tomography, Optical Coherence


  • Cystine