Indian Journal of Ophthalmology

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


Jae Yon Won1, Hyung Bin Hwang2, Sung Kun Chung3 
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�SQ�s Hospital, College of Medicine, The Catholic University of Korea, 180 Wangsan-ro Dongdaemun-gu, Seoul,130-709
South Korea

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.


How to cite this article:
Won JY, Hwang HB, Chung SK. A case of corneal cystinosis in a patient with rickets and chronic renal failure.Indian J Ophthalmol 2015;63:785-787


How to cite this URL:
Won JY, Hwang HB, Chung SK. A case of corneal cystinosis in a patient with rickets and chronic renal failure. Indian J Ophthalmol [serial online] 2015 [cited 2024 Mar 19 ];63:785-787
Available from: https://journals.lww.com/ijo/pages/default.aspx/article.asp?issn=0301-4738;year=2015;volume=63;issue=10;spage=785;epage=787;aulast=Won;type=0