Open AccessDiagnosis of Nephropathic Cystinosis in a Child During Routine Eye Exam
Author(s) -
Mahmut Ecel,
Ayça Sarı,
Ali Delibaş
Publication year - 2017
Publication title -
turkish journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.654
H-Index - 10
eISSN - 2147-2661
pISSN - 1300-0659
DOI - 10.4274/tjo.69922
Subject(s) - cystinosis , medicine , ophthalmology , pediatrics , optometry , chemistry , cystine , cysteine , enzyme , biochemistry
We present a 7-year-old patient who was diagnosed with asymptomatic nephropathic cystinosis following the detection of the pathognomonic corneal white crystalline opacities during a routine eye examination.
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