Ocular manifestations in Leigh syndrome

Kyo Ryung Kim, Suk Ho Byeon, Young Mock Lee, Hoon Chul Kang, Joon Soo Lee, Heung Dong Kim

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)163-166
Number of pages4
JournalKorean Journal of Pediatrics
Issue number2
Publication statusPublished - 2010

Bibliographical note

Funding Information:
The authors wish to declare that they have no commercial interests relevant to the contents of this article. The preparation of this review was supported by the project 1FD97-1035-C02-01 from the Spanish Ministry of Education and Culture.

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Pediatrics


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