Posterior segment optical coherence tomography findings in a case of nephropathic cystinosis
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DOI: 10.4103/1319-4534.305049
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… read more here.
Keywords: optical coherence; case nephropathic; posterior segment; coherence tomography ... See more keywords