Ocular Involvement Caused by the Accumulation of Porphyrins in a Patient with Congenital Erythropoietic Porphyria

Congenital erythropoietic porphyria (CEP) was described as a rare autosomal recessive disorder characterized by a significant reduction in uroporphyrinogen III synthase activity, leading to severe cutaneous photosensitivity, chronic hemolysis, and massive porphyrinuria. The study highlighted ocular involvement in a patient with CEP, noting a remarkable increase of porphyrins in tear drops and scleral changes. The condition also presented with red urine from infancy and red-stained teeth, with hemolytic anemia being a common complication that could be alleviated by splenectomy.