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OPHTHALMOLOGY PRACTICE
Year : 2015  |  Volume : 63  |  Issue : 10  |  Page : 785-787

A case of corneal cystinosis in a patient with rickets and chronic renal failure


1 Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, South Korea
2 Department of Ophthalmology and Visual Science, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, South Korea
3 Department of Ophthalmology and Visual Science, St. Paul's Hospital, College of Medicine, The Catholic University of Korea, Seoul, South Korea

Correspondence Address:
Prof. Sung Kun Chung
Department of Ophthalmology and Visual Science, St. Paul's Hospital, College of Medicine, The Catholic University of Korea, 180 Wangsan-ro Dongdaemun-gu, Seoul,130-709
South Korea
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0301-4738.171509

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A 22-year-old man diagnosed with nephropathic cystinosis at the age of 4 years was found to have progressive bilateral corneal crystal deposition. He presented with severe photophobia and decreased visual acuity. Ocular cystinosis was diagnosed on observing the typical crystals. Optical coherence tomography showed multiple areas of stromal hyperreflectivity due to crystal deposits within the corneal stroma. Ex vivo transmission electron microscopy of the cornea showed pathognomonic crystal deposits in corneal stromal keratocytes. Using polymerase chain reaction sequencing of the entire coding region, we identified five gene mutations, including two unreported mutations.


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