Journal
SAUDI JOURNAL OF OPHTHALMOLOGY
Volume 34, Issue 2, Pages 142-144Publisher
WOLTERS KLUWER MEDKNOW PUBLICATIONS
DOI: 10.4103/1319-4534.305049
Keywords
Cystinosis; nephropathic cystinosis; optical coherence tomography
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Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by abnormal accumulation of intracellular cystine in various tissues including the brain, kidneys, bones, and eyes. Infantile nephropathic cystinosis is the most severe phenotype of cystinosis that has been associated with a wide spectrum of ocular features. In this report, the author describes a posterior segment spectral-domain optical coherence tomography (SD-OCT) finding that has not been previously reported in a case of nephropathic cystinosis.
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