Höehr GC, Vesanterä FR, Biselli LG, Selegatto LT, Batalha CP, Alves LP, Sobrinho MVA and Pereira IC
Xeroderma Pigmentosum is an autosomal recessive disease caused by alterations in the DNA repairing gene. The clinical manifestation involves extreme sensitivity to ultraviolet radiation and progressive effects in sun exposed areas (skin, mucosa and ocular surface) such as inflammation, sunburn, pigment changes and neoplasia. This disease may be associated with ocular findings such as dry eye syndrome, photophobia, blepharospasm and a number of corneal diseases such as ulceration, perforation and tumors. In this paper, we report the case of a patient with Xeroderma Pigmentosum, accompanied by ocular manifestations and treatment.
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