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Nasal Nitric Oxide in Patients With Inherited Retinal Dystrophies
  1. Enrico Heffler, MD, PhD*,
  2. Cristiana Marchese, MD,
  3. Monica Boita BSc, PhD*,
  4. Giovanni Rolla, MD*
  1. From the *Department of Medical Sciences, Allergy and Clinical Immunology, University of Turin, AO Ordine Mauriziano, and †Clinical Pathology, AO Ordine Mauriziano, Turin, Italy.
  1. Received May 17, 2014, and in revised form November 22, 2014.
  2. Accepted for publication November 24, 2014.
  3. Reprints: Enrico Heffler, MD, PhD, Department of Medical Sciences, Allergy and Clinical Immunology, University of Turin, AO Ordine Mauriziano, Largo Turati 62, 10128, Turin, Italy. E-mail: heffler.enrico{at}gmail.com.
  4. This study was not financially supported.
  5. All the authors have no conflict of interest to declare.

Abstract

Background Ciliopathies refer to a wide variety of diseases in which mutations in the genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia play pathogenetic roles, and in such diseases, retinal involvement may be present. Nitric oxide (NO) plays an important role in airway physiology, including regulation of ciliary motility and host defense. In primary ciliary dyskinesia, a syndromic ciliopathy, nasal NO (nNO) levels were reported to be extremely low compared with controls, possibly reflecting molecular defects leading to structural and functional ciliary abnormalities. We investigated whether decreased nitric levels were also present in patients with retinal inherited dystrophies.

Methods Nasal NO was measured in a group of patients with syndromic and nonsyndromic inherited retinal dystrophies.

Results Patients with inherited retinal dystrophies, both syndromic and nonsyndromic, had mean nNO levels that were lower than healthy controls. Seven patients had particularly low levels of nNO: 3 patients with retinitis pigmentosa and 4 individual patients with Mainzer-Saldino syndrome, Bardet-Biedl syndrome, Usher syndrome, and cone-rod disease.

Conclusions These findings provide evidence that there is an underlying abnormal ciliary function involving the nasal epithelium in some patients with inherited retinal dystrophies.

Key Words
  • inherited retinal dystrophies
  • nitric oxide
  • exhaled breath analysis
  • nose
  • ciliopathies

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