Xeroderma pigmentosum (XP) is a rare genetic disease characterised by
defective DNA repair leading to clinical and cellular hypersensitivity
to ultraviolet radiation. The oculocutaneous features of 10 patients
with XP were studied retrospectively. General features included parent
al consanguinity (40%), familiality (60%), onset of symptoms in first
2 years (50%), malignant skin neoplasms (60%), and carcinoma of the to
ngue (20%). Among the ocular features, 50% of patients presented with
photophobia. Lid freckles or atrophic skin lesions were seen in all pa
tients. Lower lid tumours were seen in 30%, chronic conjunctival conge
stion in 40%, corneal opacification in 40%, squamous cell carcinoma of
limbus in 20%, bilateral pterygium in 40%, and visual impairment in 5
0%. The clinical features (ocular and cutaneous) of the cases are disc
ussed.