Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder in which the activity of uroporphyrinogen III synthase (UROS) is decreased. This results in the accumulation of photoreactive porphyrinogens, primarily in the skin and bone marrow. We describe a case of a patient with CEP who initially presented with scarring and shortening of the anterior and posterior lid lamella, which led to the development of lagophthalmos. Vascularized hyperkeratotic plaques in both corneas were also present. Despite treatment with topical ocular surface lubricants, corneal perforation with iris and uvea prolapse developed and evisceration of the right eye under local anesthesia was performed. The presented case suggests that despite topical therapy, ocular complications may exacerbate requiring surgical intervention, especially in the presence of lagophthalmos.
Keywords: congenital erythropoietic porphyria; corneal perforation; evisceration; lagophthalmos; porphyrinogens.