Abstract

<br>Cystinosis is a lysosomal storage disorder characterized by cystine crystal accumulation in different parts of body including the eyes. The purpose of this article was to describe different ophthalmological abnormalities in cystinosis using multimodal imaging. A 5-year-old girl with cystinosis was assessed clinically and with slit-lamp photography (SLP), anterior segment-OCT (AS-OCT), in vivo confocal microscopy (IVCM), fundus photography, swept-source optical coherence tomography (SS-OCT), and fundus autofluorescence. Based on all findings, she was diagnosed with ocular cystinosis. Corneal crystals were better visualized by IVCM than AS-OCT or SLP. Retinal crystal were well delineated by OCT.<br>

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