Ocular manifestations of xeroderma pigmentosum at a tertiary eye care center in Saudi Arabia

To study the clinical profile of Saudi cases of xeroderma pigmentosum (XP).

This is a single-center, retrospective, consecutive case series of all cases of XP seen at King Khaled Eye Specialist Hospital from January 1, 1986, to December 31, 2006. The main outcome measures were clinical features, visual outcome, and histopathologic findings.

Of 33 patients initially included in this study, 6 were excluded from the final analysis because of either unconfirmed diagnosis of XP or insufficient follow up. The final analysis included 27 patients (14 female patients, 13 male patients). A history of consanguinity was present in the parents of one third of our patients. The age at onset of ocular complications ranged from 5 to 67 years (median age, 19 years). The number of patients with no light perception (NLP) increased from 1 patient (3.7%) at the initial visit to 5 patients (18.5%) at the last visit. In 13 of 27 patients (48.1%), conjunctival tumors were observed; 10 tumors were confirmed histopathologically to be squamous cell carcinomas. Basal cell carcinoma (BCC) was the most common histopathologic diagnosis of eyelid tumors and was noted in 4 patients (14.8%). Furthermore, 10 patients (37.0%) had a history of skin malignancy, and 5 patients (18.1%) had neurologic abnormalities.

Patients with XP who presented to a tertiary eye care center in Saudi Arabia had a high percentage of consanguinity in parents and late onset of ocular complications. Additionally, XP behaved aggressively in both malignancy profile and visual outcome.