Anterior Segment Optical Coherence Tomography of Ocular Cystinosis Confirmed by Electron Microscopy

Ocul Oncol Pathol. 2019 Feb;5(2):110-113. doi: 10.1159/000490389. Epub 2018 Jul 12.


Purpose: To report a case of ocular cystinosis diagnosed by anterior segment optical coherence tomography (AS-OCT) and histopathology.

Methods: A 67-year-old man who presented with eye pain was found to have unilateral corneal crystal deposition. Ocular cystinosis was diagnosed by histopathology, AS-OCT, and lack of renal involvement of the disease.

Results: AS-OCT showed hyperreflective densities in the corneal epithelium. The patient underwent superficial keratectomy given irregular astigmatism prior to cataract surgery. Electron microscopy of the corneal scrapings revealed epithelial cells with intracystoplasmic membrane-bound crystals confirming the diagnosis of cystinosis.

Conclusion: To our knowledge, this is the first reported case of ocular cystinosis involving strictly the epithelial layer of the cornea that has been imaged by AS-OCT.

Keywords: Anterior segment optical coherence tomography; Electron microscopy; Ocular cystinosis.