Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Leigh 증후군 환아에서의 안과적 이상 소견

Ocular manifestations in Leigh syndrome

  • 김교륭 (연세대학교 의과대학 소아과학교실) ;
  • 변석호 (연세대학교 의과대학 안과학교실) ;
  • 이영목 (연세대학교 의과대학 소아과학교실) ;
  • 강훈철 (연세대학교 의과대학 소아과학교실) ;
  • 이준수 (연세대학교 의과대학 소아과학교실) ;
  • 김흥동 (연세대학교 의과대학 소아과학교실)
  • Kim, Kyo Ryung (Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital Yonsei University College of Medicine) ;
  • Byeon, Suk Ho (The Institute of Vision Research, Department of Ophthalmology, Severance Hospital Yonsei University College of Medicine) ;
  • Lee, Young Mock (Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital Yonsei University College of Medicine) ;
  • Kang, Hoon Chul (Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital Yonsei University College of Medicine) ;
  • Lee, Joon Soo (Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital Yonsei University College of Medicine) ;
  • Kim, Heung Dong (Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital Yonsei University College of Medicine)
  • 투고 : 2009.09.15
  • 심사 : 2009.10.19
  • 발행 : 2010.02.15
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초록

목 적 : 사립체 질환의 종류 중 대표적으로 알려진 Leigh 증후군 환아에서 안과적 증상의 종류와 실제 안과 진료에서 시행한 안저 검사 결과를 분석하였다. 방 법 : 사립체 호흡 연쇄 복합체 결함을 진단받고 임상적으로 Leigh 증후군의 기준에 합당한 환아 중에서 안저 검사를 시행하였던 24명을 대상으로 하였다. 대상 환아 들의 임상 양상과 안과적 증상, 안저 검사 결과를 후향적으로 분석하였다. 결 과 : 24명의 Leigh 증후군 환아 중 안과적 증상이 있는 경우가 11명(48%)이었고, 특이 증상이 발견되지 않았던 경우가 13명(54.2%)이었다. 이상 증상으로는 시력 이상이 5명(20.8%)로 가장 많았다. 안저 검사 결과에서 이상 소견이 17명(70.8%)에서 관찰되었으며, 다양한 이상 소견 중에서 망막의 색소침착이 9명(37.5%)로 가장 많았다. 결 론 : 사립체 질환에서 안과적 증상이 뚜렷하지 않은 환자에서도 안저 검사가 안과적 이상을 찾아낼 수 있는 중요한 선별검사일 수 있으며, 앞으로 안과적 증상과 관련된 위험 요인을 발견한다면 좀더 상황에 맞는 선별적인 검사가 진행될 수 있을 것으로 판단된다.

Purpose : Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination of patients with Leigh syndrome. Methods : Funduscopy was conducted on 24 subjects, who were chosen among those diagnosed as having mitochondrial respiratory chain complex defect and who were clinically suitable for the criteria of Leigh syndrome. Their clinical features, ophthalmologic symptoms, and ophthalmologic examination results were retrospectively analyzed. Results : Of the 24 patients with Leigh syndrome, 11 developed ophthalmologic symptoms and no abnormal finding was observed in 13. The most frequent abnormal finding was visual disturbance in 5 patients. Funduscopy revealed abnormal findings in 17 patients; retinal pigmentation was the most frequent abnormality and was seen in 9 patients. Conclusion : Funduscopy can be an important screening test to find ophthalmologic abnormalities among patients with mitochondrial disease (MD), including those patients whose ophthalmologic symptoms are inconspicuous. It is predicted that an improved screening test can be made in the future that will identify risk factors related to ophthalmologic symptoms.

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과제정보

연구 과제 주관 기관 : Yonsei University College of Medicine

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