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Ocular surface biopsies of patients with xeroderma pigmentosum in the United Kingdom: A retrospective observational case series

British Journal of Ophthalmology Sep 10, 2020

Vekinis J, et al. - In the present study, the researchers reported the outcomes of all ocular surface biopsies conducted 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. This is the largest series of ocular surface biopsies reported in patients with XP. All patients with XP seen by the service between 2010 and 2019 were involved and those with ocular surface biopsies were identified. Of 108 individuals seen in the service, 17 had at least one ocular surface biopsy. Forty-five biopsy samples were available from 13 patients, 65% of whom were performed on patients from complementation subgroup C (XP-C). The series identifies a background of ocular surface melanocytic, degenerative, and inflammatory changes, with patients with XP-C exhibiting the most severe effects. In understanding their histopathology and in planning subsequent treatments, the authors illustrate difficulties faced.

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