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Ocular surface biopsies of patients with xeroderma pigmentosum in the United Kingdom: a retrospective observational case series
  1. John Vekinis1,2,
  2. Ana M Susana Morley1,2
  1. 1The Nationally Commissioned Xeroderma Pigmentosum Service, Guy’s and Saint Thomas’ Hospitals NHS Trust, London, UK
  2. 2Department of Ophthalmology, Guy’s and Saint Thomas’ Hospitals NHS Trust, London, UK
  1. Correspondence to John Vekinis, The Nationally Commissioned Xeroderma Pigmentosum Service, Guy’s and Saint Thomas’ Hospitals NHS Trust, London SE1 7EH, UK; johnvekinis{at}gmail.com

Abstract

Background/Aims To describe the results of all ocular surface biopsies performed on patients with xeroderma pigmentosum (XP) under the care of the UK Nationally Commissioned XP Service as well as the treatment of any subsequent ocular surface conditions diagnosed.

Methods Retrospective analysis of medical records. All patients with XP seen by the service from 2010 to 2019 were included and those with ocular surface biopsies were identified. Data was collected on demographics, complementation subgroup (A–G and V), biopsy details, histopathological analysis and subsequent management.

Results Of 108 patients seen in our service, 17 underwent at least one ocular surface biopsy. 45 biopsy samples were available from 13 patients of which 65% were performed on patients from complementation subgroup C (XP-C). Biopsies were categorised as either non-mapping (clinically abnormal ocular surface tissue) or mapping (multiple sites including clinically normal tissue). 67 percent of non-mapping biopsies had a mass as their indication and 46% showed ocular surface squamous neoplasia. General non-dysplastic damage was seen in 67% of non-mapping biopsies and melanocytic changes were seen in 25% of non-mapping and 81% of mapping biopsies. 47 percent of biopsy outcomes required no additional treatment but, of those that did, 50% received mitomycin C.

Conclusions This is the largest reported series of ocular surface biopsies in patients with XP. It identifies a background of ocular surface melanocytic, degenerative and inflammatory changes, with patients with XP-C showing the most severe effects. We highlight challenges faced in interpreting their histopathology and in planning subsequent treatments.

  • Conjunctiva
  • Genetics
  • Inflammation
  • Neoplasia
  • Ocular surface
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Footnotes

  • Contributors All authors contributed to design, data collection and analysis of data and also contributed to initial writing and revision of the article. All have approved all drafts.

  • Funding The National Multidisciplinary XP Clinic in the UK is funded by NHS England Highly Specialised Services (no grant number available). Supported by the Medical Research Council (fellowship grant no. MR/M001210/1 to AMSM), the UK National Institute for Health Research (NIHR) Biomedical Research Centre (based at Guy’s and St Thomas’ NHS Foundation Trust) and King’s College London, UK (no grant number available). The sponsor or funding organization had no role in the design or conduct of this research.

  • Competing interests None declared.

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

  • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information.

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