Literature record
Posterior segment optical coherence tomography findings in a case of nephropathic cystinosis.
PMID 33575541 | PMCID PMC7866722 | DOI 10.4103/1319-4534.305049 · Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society · 2020
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.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | lysosomal storage disease | “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.” | 0.93 | phenotype_alias_lexicon_v2 |