Open Journal of Ophthalmology, 2014, 4, 120-123 Published Online November 2014 in SciRes. http://www.scirp.org/journal/ojoph http://dx.doi.org/10.4236/ojoph.2014.44020 How to cite this paper: Elawamry, A.I., El-Moatassem Kotb, A.M. and Hany, S. (2014) Xeroderma Pigmentosa: High Risk for Ocular Neoplasia. Open Journal of Ophthalmology, 4, 120-123. http://dx.doi.org/10.4236/ojoph.2014.44020 Xeroderma Pigmentosa: High Risk for Ocular Neoplasia Amr I. Elawamry 1 , Ahmed M. El-Moatassem Kotb 1,2 , Sameh Hany 1 1 Ain-Shams University Hospitals, Cairo, Egypt 2 Ophthalmology Consultant British Lasik and Cosmetic Surgery Center, Dubai, UAE Email: ahmedelmotasem@yahoo.com Received 1 September 2014; revised 21 September2014; accepted 29 October 2014 Copyright © 2014 by authors and Scientific Research Publishing Inc. This work is licensed under the Creative Commons Attribution International License (CC BY). http://creativecommons.org/licenses/by/4.0/ Abstract Aim of Work: The aim of our work was early cytological and laboratory detection of any ocular surface malignant changes in xeroderma pigmentosa. Patients and Methods: Eighteen cases with xeroderma pigmentosa were included in this study. All cases were subjected to full ophthalmolog- ical examination, conjunctival biopsy from any abnormal lesion, polymerase chain reaction assay and impression cytology. Results: All cases were boys; the mean age was 11 years old. The main ocular presentation was dryness and abnormal epibulbar masses in different locations. Polyme- rase chain reaction represents precipitation of malignant cells which was confirmed by impres- sion cytology. Conclusion: PCR and impression cytology are beneficial investigations for detection of any malignant changes in xeroderma pigmentosa. Keywords Xeroderma Pigmentosa, Neoplasia, Early Detection 1. Introduction Patients with xeroderma pigmentosa experience cutaneous and ocular abnormalities, including the development of neoplasia. The ocular tissues affected in xeroderma pigmentosa include ocular and periocular tissues exposed to ultra violet light rays of sun [1]. Impression cytology is a non-invasive technique for obtaining superficial sheets of cells from the ocular sur- faces using Millipore filter paper [2]. Polymerase chain reaction (PCR) assay was first applied in basic science but has rapidly entered into all areas of clinical medicine. PCR is beneficial in diagnosis of infectious diseases and detecting the type of the causative organism and in detecting malignant cells [3].