Clinicopathological features of ocular cystinosis
Article first published online: 29 DEC 2008
© 2008 The Authors. Journal compilation © 2008 Royal Australian and New Zealand College of Ophthalmologists
Clinical & Experimental Ophthalmology
Volume 36, Issue 8, pages 778–781, November 2008
How to Cite
Kocabora, M. S., Ozbilen, K. T., Altunsoy, M., Ahishali, B. and Taskapili, M. (2008), Clinicopathological features of ocular cystinosis. Clinical & Experimental Ophthalmology, 36: 778–781. doi: 10.1111/j.1442-9071.2008.01886.x
- Issue published online: 29 DEC 2008
- Article first published online: 29 DEC 2008
- Received 9 July 2008; accepted 14 October 2008.
- confocal microscopy;
- optical coherence tomography;
- transmission electron microscopy
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.