Sarfraz Latif, Ch Javed Iqbal, Abdus Samad, Imran Akram Sahaf.
Frequency of Ocular Findings in Patients of Xeroderma Pigmentosum presenting in Eye Department.
Ophthalmol Update Jan ;13(3):204-7.

Purpose: To find out the frequency of ophthalmological pathologies and their sign/symptoms purely associated with Xeroderma Pigmentosum in patients presenting to ophthalmology department. Methodology: We studied 32 eyes of 16 patients of Xeroderma Pigmentosum from March 2014 to April 2015 in Institute of Ophthalmology, Mayo Hospital, Lahore. In this cross sectional study, all patients were recruited by non-probability purposive sampling technique after taking informed consent. Diagnosis was purely clinical by the help of dermatologist. Complete ophthalmological examination of all patients was done by the help of torch, slit lamp, direct ophthalmoscope, indirect ophthalmoscope, retinoscope and sometimes by microscope. Any patient requiring any ophthalmological manipulation was admitted and managed accordingly. All patients and their attendants were counseled properly for prophylaxis and prevention of complications. Results: Data was collected in 32 eyes of 16 patients. Age ranges from 3-60 years with median age of 20 year with equal gender distribution. Clinical abnormalities such as photophobia, irritation, watering, bloodshot, darkening of skin and skin freckles were present in all eyes (100%) of patients.Corneal haziness in 20 eyes (62.5%). Conjunctival and lid masses presented in 16 eyes (50%). Orbital involvement and requirement of exenteration in 10 eyes (31.5%) and 5 eyes(15.6%). All pathologies presented more in right eye. Conclusion: We concluded that all patients of Xeroderma Pigmentosum are at high risk of developing ocular complications which can be fatal and decrease life span of patients, so they need frequent visits, dedicated follow-up, multiple surgeries, psychosocial care and proper referral.

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