두 가지 유전적 변이가 동반된 선천성 적혈구조혈성 포르피린증 1예

Ocular Manifestation of Compound Heterozygotic Mutation in Congenital Erythropoietic Porphyria

Purpose: Congenital erythropoietic porphyria (CEP) is a rare disorder inherited as an autosomal recessive trait, which is characterized by almost complete reduction of uroporphyrinogen III synthase (UROS) activity. The authors of the present study report a case of congenital erythropoietic porphyria with severe ocular involvement. Case summary: A 27-year-old male patient diagnosed with congenital erythropoietic porphyria was referred to our clinic with a history of ocular pain, and foreign body sensation in both eyes. Visual acuity was light perception in both eyes. Severe scarring of eyelids, corneal leukoma with neovascularization, total limbal deficiency and scleromalacia were observed in both eyes. Identification of the uroporphyrinogen III synthase (UROS) gene mutation revealed the patient had a compound heterozygote mutation at p.Q249X (c.745C＞T) and p.L237P (c.710T＞C) in exon 10. Conclusions: CEP is clinically characterized by severe cutaneous photosensitivity, hemolytic anemia and porphyriuria. In addition to these manifestations, the authors report a severe ocular involvement in a patient with CEP who had a compound heterozygote mutation at p.Q249X (c.745C＞T) and p.L237P (c.710T＞C) in exon 10.