Chae Jung Hyun, Lee Jung Hun, Kim Kyo Ryung, Byeon Suk Ho, Lee Young Mock, Kang Hoon Chul, Lee Joon Soo, Kim Heung Dong
Department of Pediatrics, Gangnam Severance Hospital, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
Korean J Pediatr. 2010 Dec;53(12):994-9. doi: 10.3345/kjp.2010.53.12.994. Epub 2010 Dec 31.
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).
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.
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.
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.
线粒体功能障碍根据其所影响的器官不同会表现出各种症状。本研究试图分析线粒体疾病（MD）患者的眼科症状和眼科检查（OE）结果。
本研究纳入了74例经生化酶测定诊断为线粒体呼吸链复合物缺陷的患者。根据眼底镜检查的OE结果将他们分为2组，并基于其临床特征、生化检测结果、形态学分析和神经影像学检查结果进行分析。
74例MD患者中有37例（50%）出现眼科症状。在OE过程中，36例（48.6%）患者观察到异常发现，其中16例（21.6%）无眼部症状。在OE结果异常的组中，早产、癫痫或频繁呼吸暂停事件的临床病史、肌肉病理学中光镜检查异常、磁共振成像中弥漫性脑萎缩以及磁共振波谱中脑干高信号和乳酸峰的发生率显著更高。
尽管MD患者的眼科症状不太明显，但仍需要进行OE。当观察到上述危险因素时，在OE中应采取更积极的方法，因为预计眼部受累的频率会更高。
