Xeroderma pigmentosum is a rare inherited defect in DNA repair that causes extreme sensitivity to UV light. Skin and ocular surfaces are particularly vulnerable to damage and cancer.
Ocular manifestations
UV-induced changes accumulate from early childhood.
- Chronic conjunctivitis, corneal haze, and lid skin atrophy
- Early onset pterygia, pingueculae, and exposure keratopathy
- High risk of conjunctival and eyelid malignancies
- Photophobia and reduced vision if corneal scarring is severe
Management
Strict photoprotection and surveillance are essential.
- UV-blocking glasses, face shields, and protective clothing from infancy
- Regular dermatology and ophthalmology review for premalignant changes
- Prompt excision of suspicious lesions
- Genetic counselling and family education on lifelong sun avoidance
