Examination of corneal deposits in nephropathic cystinosis using in vivo confocal microscopy and anterior segment optical coherence tomography: an age-dependent cross sectional study

BMC Ophthalmol. 2020 Feb 26;20(1):73. doi: 10.1186/s12886-020-01336-w.


Background: Presence of corneal cystine crystals is the main ocular manifestation of cystinosis, although controversial findings concerning the corneal layer with the highest density have been reported. The aim of this study was the analysis of the characteristics of crystal arrangement in different corneal layers and the assessment of corneal morphological changes with age.

Methods: A cross sectional study was carried out in three children and three adults who had nephropathic cystinosis and corneal cystine depositions. All patients underwent a comprehensive ophthalmological examination including best corrected distance visual acuity, slit-lamp examination, in vivo confocal microscopy and anterior segment optical coherence tomography. An evaluation of the depth of crystal deposits and crystal density in different corneal layers was also performed. Due to the low number of subjects no statistical comparison was performed.

Results: Anterior segment optical coherence tomography images revealed deposition of hyperreflective crystals from limbus to limbus in each patient. Crystals appeared as randomly oriented hyperreflective, elongated structures on in vivo confocal microscopy images in all corneal layers except the endothelium. In children the deposits occurred predominantly in the anterior stroma, while in adults, the crystals were mostly localized in the posterior corneal stroma with the depth of crystal deposition showing an increasing tendency with age (mean depth of crystal density was 353.17 ± 49.23 μm in children and it was 555.75 ± 25.27 μm in adults). Mean crystal density of the epithelium was 1.47 ± 1.17 (median: 1.5; interquartile range: 0.3-2.4). Mean crystal density of the anterior and posterior stroma of children and adults was 3.37 ± 0.34 (median: 3.4; interquartile range: 3.25-3.55) vs. 1.23 ± 0.23 (median: 1.2; interquartile range: 1.05-1.35) and 0.76 ± 0.49 (median: 0.7; interquartile range: 0.4-1.15) vs. 3.63 ± 0.29 (median: 3.7; interquartile range: 3.45-3.8), respectively. Endothelium had intact structure in all cases. Some hexagonal crystals were observed in two subjects.

Conclusions: In vivo confocal microscopy and anterior segment optical coherence tomography confirmed an age-related pattern of crystal deposition. In children, crystals tend to locate anteriorly, while in adults, deposits are found posteriorly in corneal stroma.

Keywords: Anterior segment optical coherence tomography; Cornea; Corneal crystals; In vivo confocal microscopy; Nephropathic cystinosis.

MeSH terms

  • Adolescent
  • Adult
  • Anterior Eye Segment / diagnostic imaging*
  • Child
  • Cornea / diagnostic imaging
  • Cornea / metabolism*
  • Corneal Diseases / diagnostic imaging
  • Corneal Diseases / metabolism*
  • Cross-Sectional Studies
  • Crystallization
  • Cysteine / metabolism*
  • Cystinosis / diagnostic imaging
  • Cystinosis / metabolism*
  • Female
  • Humans
  • Male
  • Microscopy, Confocal*
  • Tomography, Optical Coherence*
  • Visual Acuity
  • Young Adult


  • Cysteine