Ocular manifestations of xeroderma pigmentosum

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
Saemah Nuzhat ZafarNadeem Zafar

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive (AR) condition characterized by photosensitivity and inability to repair ultra-violet (UV) induced DNA damage. Patients diagnosed with XP, presenting to the Paediatric ophthalmology department of Al-Shifa Trust Eye Hospital, Rawalpindi, were evaluated and followed-up over a period of one year, for the effects of the disease process on vision and for the development of ocular tumours. Excision of the tumours, if present, was performed under general anaesthesia. Counselling of the patients was done. Referral to oncologist and dermatologist was made, if so warranted, after histopathology of excision biopsy.

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