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Korean J Pediatr 2010 December;53(12) :994-999.
Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect
Jung Hyun Chae (Chae JH)1, Jung Hun Lee (Lee JH)1, Kyo Ryung Kim (Kim KR)1, Suk Ho Byeon (Byeon SH)2, Young Mock Lee (Lee YM)1, Hoon Heung Dong (Dong HH)1, Joon Soo Lee (Lee JS)1, Heung Dong Kim (Kim HD)1
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
Corresponding Author: Young Mock Lee ,Email:
Copyright © 2010 by The Korean Pediatric Society
Purpose : Mitochondrial dysfunction can present with various symptoms depending on the organ it has affected. This research tried to analyze the ophthalmologic symptoms and ophthalmologic examination (OE) results in patients with mitochondrial disease (MD). Methods : Seventy-four patients diagnosed with mitochondrial respiratory chain complex defect with biochemical enzyme assay were included in the study. They were divided into 2 groups based on the OE results by funduscopy and were analyzed on the basis of their clinical features, biochemical test results, morphological analysis, and neuroimaging findings. Results : Thirty-seven (50%) of the 74 MD patients developed ophthalmologic symptoms. Abnormal findings were observed in 36 (48.6%) patients during an OE, and 16 (21.6%) of them had no ocular symptoms. Significantly higher rates of prematurity, clinical history of epilepsy or frequent apnea events, abnormal light microscopic findings in muscle pathology, diffuse cerebral atrophy in magnetic resonance imaging, and brainstem hyperintensity and lactate peaks in magnetic resonance spectroscopy were noted in the group with abnormal OE results. Conclusion : Although the ophthalmologic symptoms are not very remarkable in MD patients, an OE is required. When the risk factors mentioned above are observed, a more active approach should be taken in the OE because a higher frequency of ocular involvement can be expected.
Keywords: Mitochondria | Ophthalmology | Retina | Funduscopy | Risk factor
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