Korean J Pediatr.  2010 Feb;53(2):163-166. 10.3345/kjp.2010.53.2.163.

Ocular manifestations in Leigh syndrome

• Kim KR
• Byeon SH
• Lee YM
• Kang HC
• Lee JS
• Kim HD

• KMID: 2281360
• DOI: http://doi.org/10.3345/kjp.2010.53.2.163

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.

Keyword

Leigh syndrome; Ocular involvement; Ophthalmologic examination

MeSH Terms

Electron Transport
Humans
Leigh Disease
Mass Screening
Mitochondrial Diseases
Pigmentation
Retinaldehyde
Retrospective Studies
Risk Factors
Retinaldehyde