두 가지 유전적 변이가 동반된 선천성 적혈구조혈성 포르피린증 1예

• 영문명: Ocular Manifestation of Compound Heterozygotic Mutation in Congenital Erythropoietic Porphyria
• 발행기관: 대한안과학회
• 저자명: 김성은 이형근,Sung Eun Kim, MD, Hyung Keun Lee, MD
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume50,number3, 477~480쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2009.03.15

영문 초록

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.

키워드

Congenital erythropoietic porphyria, Conjunctivalized cornea, Ectropion