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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… Click to show full abstract
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.
Journal Title: Saudi Journal of Ophthalmology
Year Published: 2020
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