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CASE REPORT
Year : 2021  |  Volume : 1  |  Issue : 3  |  Page : 545-547

Multimodal imaging of infantile nephropathic cystinosis


1 Sri Bhagwan Mahavir Department of Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India
2 Department of Cornea and Refractive Surgery, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India

Correspondence Address:
Dr. P Sen
Sri Bhagwan Mahavir Department of Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, No 41 (Old 18) College Road, Chennai - 600 006, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_1977_20

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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.


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