| Ocular manifestations in Leigh syndrome |
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Kyo Ryung Kim1, Suk Ho Byeon2, Young Mock Lee1, Hoon Chul Kang1, Joon Soo Lee1, Heung Dong Kim1 |
1Department of Pediatrics, Gangnam Severance Hospital, Severance Children`s Hospital, Yonsei University College of Medicine, Seoul, Korea
2The Institute of Vision Research, Department of Ophthalmology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea |
| Leigh 증후군 환아에서의 안과적 이상 소견 |
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김교륭1, 변석호2, 이영목1, 강훈철1, 이준수1, 김흥동1 |
1연세대학교 의과대학 소아과학교실
2연세대학교 의과대학 안과학교실 |
Correspondence:
Young Mock Lee, Tel: +82.2-2019-3354, Fax: +82.2-3461-9473, Email: ymleemd@yumc.yonsei.ac.kr
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| Abstract |
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. |
| Key Words:
Leigh syndrome, Ocular involvement, Ophthalmologic examination |
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