Small fiber peripheral neuropathy in wilson disease: An in vivo documentation by corneal confocal microscopy

Giacomo Carlo Sturniolo, Daniela Lazzarini, Ottavia Bartolo, Marianna Berton, Andrea Leonardi, Iva Angela Fregona, Raffaele Parrozzani, Edoardo Midena

Research output: Contribution to journalArticle

Abstract

PURPOSE. Wilson disease (WD) is a disorder of hepatic copper metabolism leading to copperaccumulation in hepatocytes and in extrahepatic organs, as the brain and cornea. The aim of this study was to investigate central corneal changes and in particular to assess the parameters of corneal subbasal nerve plexus (SBNP) in patients affected by WD, using corneal confocal microscopy (CCM). METHODS. A total of 24 patients affected by WD and 24 healthy control subjects were included in this cross-sectional comparative study. One eye of each subject was examined to quantify different corneal parameters. Mean cell diameter and mean cell density of the epithelium; number of fibers (NF), nerve fiber length density (NFLD), number of branchings (NBr), number of beadings (NBe), and fiber tortuosity (FT) of the SBNP; mean cell density of keratocytes of the anterior, medium, and posterior stroma; and mean cell density, polimegatism, and pleomorphism of the endothelium, and central corneal sensitivity were analyzed. RESULTS. Wilson disease induced significant alterations in SBNP, and corneal epithelium. The NFLD (P <0.0001), NF (P <0.001), NBe (P <0.025), and NBr (P <0.0001) were significantly lower, whereas FT (P <0.0001) was significantly higher in WD subjects compared to controls. Moreover mean epithelial cell diameter (P <0.0001) and mean epithelial cell density (P <0.0001) were significantly higher and lower compared to controls, respectively. CONCLUSIONS. The CCM showed significant corneal changes in SBNP, with concomitant corneal epithelium changes in WD, demonstrating the presence of small fiber peripheral neuropathy in these patients. The CCM may contribute to diagnosis and monitoring of the peripheral nervous system involvement in WD.

Original languageEnglish
Pages (from-to)1390-1395
Number of pages6
JournalInvestigative Ophthalmology and Visual Science
Volume56
Issue number2
DOIs
Publication statusPublished - 2015

Fingerprint

Hepatolenticular Degeneration
Peripheral Nervous System Diseases
Confocal Microscopy
Documentation
Cell Count
Corneal Epithelium
Nerve Fibers
Epithelial Cells
Corneal Endothelium
Peripheral Nervous System
Small Fiber Neuropathy
Cornea
Copper
Hepatocytes
Healthy Volunteers
Epithelium
Cross-Sectional Studies
Liver
Brain

Keywords

  • Corneal confocal microscopy
  • Subbasal nerve plexus
  • Wilson disease

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience
  • Medicine(all)

Cite this

Small fiber peripheral neuropathy in wilson disease : An in vivo documentation by corneal confocal microscopy. / Sturniolo, Giacomo Carlo; Lazzarini, Daniela; Bartolo, Ottavia; Berton, Marianna; Leonardi, Andrea; Fregona, Iva Angela; Parrozzani, Raffaele; Midena, Edoardo.

In: Investigative Ophthalmology and Visual Science, Vol. 56, No. 2, 2015, p. 1390-1395.

Research output: Contribution to journalArticle

Sturniolo, Giacomo Carlo ; Lazzarini, Daniela ; Bartolo, Ottavia ; Berton, Marianna ; Leonardi, Andrea ; Fregona, Iva Angela ; Parrozzani, Raffaele ; Midena, Edoardo. / Small fiber peripheral neuropathy in wilson disease : An in vivo documentation by corneal confocal microscopy. In: Investigative Ophthalmology and Visual Science. 2015 ; Vol. 56, No. 2. pp. 1390-1395.
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abstract = "PURPOSE. Wilson disease (WD) is a disorder of hepatic copper metabolism leading to copperaccumulation in hepatocytes and in extrahepatic organs, as the brain and cornea. The aim of this study was to investigate central corneal changes and in particular to assess the parameters of corneal subbasal nerve plexus (SBNP) in patients affected by WD, using corneal confocal microscopy (CCM). METHODS. A total of 24 patients affected by WD and 24 healthy control subjects were included in this cross-sectional comparative study. One eye of each subject was examined to quantify different corneal parameters. Mean cell diameter and mean cell density of the epithelium; number of fibers (NF), nerve fiber length density (NFLD), number of branchings (NBr), number of beadings (NBe), and fiber tortuosity (FT) of the SBNP; mean cell density of keratocytes of the anterior, medium, and posterior stroma; and mean cell density, polimegatism, and pleomorphism of the endothelium, and central corneal sensitivity were analyzed. RESULTS. Wilson disease induced significant alterations in SBNP, and corneal epithelium. The NFLD (P <0.0001), NF (P <0.001), NBe (P <0.025), and NBr (P <0.0001) were significantly lower, whereas FT (P <0.0001) was significantly higher in WD subjects compared to controls. Moreover mean epithelial cell diameter (P <0.0001) and mean epithelial cell density (P <0.0001) were significantly higher and lower compared to controls, respectively. CONCLUSIONS. The CCM showed significant corneal changes in SBNP, with concomitant corneal epithelium changes in WD, demonstrating the presence of small fiber peripheral neuropathy in these patients. The CCM may contribute to diagnosis and monitoring of the peripheral nervous system involvement in WD.",
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T2 - An in vivo documentation by corneal confocal microscopy

AU - Sturniolo, Giacomo Carlo

AU - Lazzarini, Daniela

AU - Bartolo, Ottavia

AU - Berton, Marianna

AU - Leonardi, Andrea

AU - Fregona, Iva Angela

AU - Parrozzani, Raffaele

AU - Midena, Edoardo

PY - 2015

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N2 - PURPOSE. Wilson disease (WD) is a disorder of hepatic copper metabolism leading to copperaccumulation in hepatocytes and in extrahepatic organs, as the brain and cornea. The aim of this study was to investigate central corneal changes and in particular to assess the parameters of corneal subbasal nerve plexus (SBNP) in patients affected by WD, using corneal confocal microscopy (CCM). METHODS. A total of 24 patients affected by WD and 24 healthy control subjects were included in this cross-sectional comparative study. One eye of each subject was examined to quantify different corneal parameters. Mean cell diameter and mean cell density of the epithelium; number of fibers (NF), nerve fiber length density (NFLD), number of branchings (NBr), number of beadings (NBe), and fiber tortuosity (FT) of the SBNP; mean cell density of keratocytes of the anterior, medium, and posterior stroma; and mean cell density, polimegatism, and pleomorphism of the endothelium, and central corneal sensitivity were analyzed. RESULTS. Wilson disease induced significant alterations in SBNP, and corneal epithelium. The NFLD (P <0.0001), NF (P <0.001), NBe (P <0.025), and NBr (P <0.0001) were significantly lower, whereas FT (P <0.0001) was significantly higher in WD subjects compared to controls. Moreover mean epithelial cell diameter (P <0.0001) and mean epithelial cell density (P <0.0001) were significantly higher and lower compared to controls, respectively. CONCLUSIONS. The CCM showed significant corneal changes in SBNP, with concomitant corneal epithelium changes in WD, demonstrating the presence of small fiber peripheral neuropathy in these patients. The CCM may contribute to diagnosis and monitoring of the peripheral nervous system involvement in WD.

AB - PURPOSE. Wilson disease (WD) is a disorder of hepatic copper metabolism leading to copperaccumulation in hepatocytes and in extrahepatic organs, as the brain and cornea. The aim of this study was to investigate central corneal changes and in particular to assess the parameters of corneal subbasal nerve plexus (SBNP) in patients affected by WD, using corneal confocal microscopy (CCM). METHODS. A total of 24 patients affected by WD and 24 healthy control subjects were included in this cross-sectional comparative study. One eye of each subject was examined to quantify different corneal parameters. Mean cell diameter and mean cell density of the epithelium; number of fibers (NF), nerve fiber length density (NFLD), number of branchings (NBr), number of beadings (NBe), and fiber tortuosity (FT) of the SBNP; mean cell density of keratocytes of the anterior, medium, and posterior stroma; and mean cell density, polimegatism, and pleomorphism of the endothelium, and central corneal sensitivity were analyzed. RESULTS. Wilson disease induced significant alterations in SBNP, and corneal epithelium. The NFLD (P <0.0001), NF (P <0.001), NBe (P <0.025), and NBr (P <0.0001) were significantly lower, whereas FT (P <0.0001) was significantly higher in WD subjects compared to controls. Moreover mean epithelial cell diameter (P <0.0001) and mean epithelial cell density (P <0.0001) were significantly higher and lower compared to controls, respectively. CONCLUSIONS. The CCM showed significant corneal changes in SBNP, with concomitant corneal epithelium changes in WD, demonstrating the presence of small fiber peripheral neuropathy in these patients. The CCM may contribute to diagnosis and monitoring of the peripheral nervous system involvement in WD.

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