Spontaneous corneal scarring in xeroderma pigmentosum

The main purpose of this report is to describe nine cases of xeroderma pigmentosum with primary spontaneous corneal scarring in the absence of history of corneal ulcers or infectious keratitis. The authors studied nine patients with xeroderma pigmentosum. Each patient underwent complete ophthalmologic and dermatologic examinations. Three patients underwent excision of squamous cell carcinoma of the conjunctiva. There were five male and four female patients, with a mean age of 14 years and a range of 5 to 21 years. Seven had conjunctival squamous cell carcinoma. All patients had spontaneous diffuse corneal stromal scars without clinical evidence of keratitis and no previous history of corneal ulcer. The corneal sensation was intact. None of the patients had ulceration of the cornea. One patient had dry eye syndrome. The clinical and histopathologic changes of the cornea and conjunctiva in patients with xeroderma pigmentosum appear to be similar to the changes occurring in sun-exposed skin. This suggests that direct exposure of corneal and conjunctival tissue to ultraviolet light in patients with xeroderma pigmentosum is the primary cause of scarring in the cornea and conjunctiva, which leads to loss of vision.