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Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
CASE REPORT
Does ocular inflammation play a role in xeroderma pigmentosum with endothelial dysfunction: an immunological study
  1. Amreen Aslam1,
  2. Noopur Gupta1,
  3. Thirumurthy Velpandian2 and
  4. Seema Sen3
  1. 1 Cataract, Cornea, Ocular Surface Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi, India
  2. 2 Ocular Pharmacology, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi
  3. 3 Ocular Pathology Services, Dr. Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, New Delhi
  1. Correspondence to Dr Noopur Gupta, noopurgupta{at}hotmail.com

Abstract

We report a case of xeroderma pigmentosum (XP) with endothelial dysfunction where the analysis of tears revealed elevated levels of proinflammatory cytokines, even in the absence of active inflammation and neovascularisation of the ocular surface. Although the role of ultraviolet (UV) radiation-induced inflammation in the occurrence of ocular manifestations of XP is known, little is published on the molecular mechanisms and there are no reports quantifying the presence of inflammatory cytokines in the tears of patients with ocular involvement of XP. Tear analysis demonstrated an increase in inflammatory cytokines and chemokines, especially interleukin-8 (2.38 ng/µg), tumour necrosis factor alpha (0.87 ng/µg) and granulocyte monocyte colony stimulating factor (0.44 ng/µg) as compared with the control eye. Effective management of the underlying UV-induced inflammation and promoting DNA repair may play a vital role in managing ocular manifestations and its sequelae in patients of XP.

  • immunology
  • ophthalmology
  • transplantation

https://doi.org/10.1136/bcr-2018-225384

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    Footnotes

    • Contributors NG, AA, TV and SS: substantial contributions to the conception or design of the work, or the acquisition, analysis or interpretation of data. NG,SS and TV: drafting the work or revising it critically for important intellectual content. NG, AA, TV and SS: final approval of the version published. NG, AA, TV and SS: agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Obtained.

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