Publication: Ocular manifestations in adolescent cystinosis: Case report in Thailand
Issued Date
2005-04-01
Resource Type
ISSN
01252208
Other identifier(s)
2-s2.0-23044455691
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of the Medical Association of Thailand. Vol.88, No.4 (2005), 521-526
Suggested Citation
Naris Kitnarong, Prapanrat Osuwannaratana, Wasu Kamchaisatian, Prawit Namtongthai, Ankana Metheetrairut Ocular manifestations in adolescent cystinosis: Case report in Thailand. Journal of the Medical Association of Thailand. Vol.88, No.4 (2005), 521-526. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/17020
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Ocular manifestations in adolescent cystinosis: Case report in Thailand
Other Contributor(s)
Abstract
Three siblings with a family history of consanguinity presented with short stature and two of the patients had leg deformity. None of them experienced ocular or renal symptoms at presentation. After the pediatricians found characteristics of Fanconi syndrome, an ophthalmic consultation was requested. Ocular examination revealed typical cystine crystals deposited in the cornea and conjunctivae. No crystal deposits were found elsewhere in the eyes. Fundoscopic examination was normal. Two patients who underwent a complete ocular examination were diagnosed as adolescent cystinosis. The youngest patient who lost to follow up before completed ocular examination was suspected for adolescent cystinosis. This is the first report of cystinosis with ocular manifestation from Thailand.