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Altered airway ciliary orientation in patients with X-linked retinitis pigmentosa
  1. Gabrielle McCray1,
  2. Paul Griffin1,2,
  3. Paul Martinello3,
  4. Robb de Iongh4,
  5. Jonathan Ruddle5,
  6. Phil Robinson1,6
  1. 1 Department of Respiratory and Sleep Medicine, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia
  2. 2 Murdoch Children's Research Instutite, Parkville, Victoria, Australia
  3. 3 Anatomical Pathology, Royal Children's Hospital Melbourne, Parkville, Victoria, Australia
  4. 4 Ocular Development Laboratory, Anatomy & Neuroscience, University of Melbourne, Parkville, Victoria, Australia
  5. 5 Departmet of Opthalmology, University of Melbourne, Parkville, Victoria, Australia
  6. 6 Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
  1. Correspondence to Professor Phil Robinson, PCD diagnostic service, Respiratory and Sleep Medicine, Royal Children's Hospital, Melbourne, Parkville, VIC 3052, Australia; phil.robinson{at}rch.org.au

Abstract

Previous reports suggested links between respiratory ciliary dysfunction and primary ciliopathies such as X-linked retinitis pigmentosa (XLRP). To investigate if patients with XLRP have abnormal airway ciliary structure or function, we assessed respiratory ciliary beat pattern and ultrastructure, including ciliary orientation, in 12 patients with XLRP without respiratory disease and 10 control subjects. Patients with XLRP had normal ciliary ultrastructure but significantly (p=0.004) increased mean ciliary deviation (33.8°±9.4°) compared with normal subjects (14.8°±5.4°). Altered orientation was associated with impaired ciliary beat pattern in six patients with XLRP. These findings indicate that XLRP mutations, affecting non-motile cilia of the photoreceptors in the retina, can have effects on motile cilia in the respiratory tract. The observation of disrupted ciliary orientation in patients with XLRP is suggestive of a defect in planar cell polarity.

  • primary ciliary dyskinesia
  • histology/cytology
  • rare lung diseases
  • systemic disease and lungs
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Footnotes

  • Correction notice This article has been corrected since it was published Online First. The author name Robb de Iongh was corrected.

  • Contributors GM, PG, PM, RdI, JR, PR were all involved in protocol development. JR and GM performed patient selection, ethics submission was constructed by PR. Nasal brushing and processing was performed by GM with assistance of PG and PM. Cilial orientation was assessed by GM and RdI. Video analysis was assessed by PG and PR. Data analysis were performed by GM, PR and Rdl. Manuscript preparation was performed by GM, PR and Rdl. All authors have reviewed and approved the final manuscript. PR serves as overall supervising author.

  • Funding This research received no specific grant from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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