| 소아F-031 |
| Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Korean with Leber’s hereditary optic neuropathy |
| 1 가톨릭대학교 의과대학 안과학교실
2 가톨릭대학교 의과대학 진단검사의학과
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| 염혜리1, 신선영1, 채효진2, 김명신2, 박신혜1 |
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목적 : To investigate the clinical significance of primary and secondary mutations of mitochondrial DNA (mtDNA) in Korean with Leber’s hereditary optic neuropathy (LHON).
방법 : We analyzed 15 patients with primary mutation and 10 patients with secondary mutation of mtDNA who were confirmed LHON. Mutations were determined by restriction enzyme analysis or DNA sequencing using polymerase chain reaction (PCR) products. The clinical features we studied included visual acuity(VA), color vision, retinal nerve fiber layer(RNFL) thickness at temporal disc and visual field(VF).
결과 : Compared the patient with primary mutation, patient with secondary mutation had increased proportion of woman (primary : secondary = 23.8% : 72.7%, p = 0.007). Color vision deficiency is significantly increased in primary mutation than secondary mutation (p=0.025). The RNFL thickness did not differ significantly between primary and secondary mutation groups. However, visual field index was significantly lower in secondary mutation (p=0.013).
결론 : We report the incidence of secondary mutation of mtDNA in Korean with LHON and the clinical features, which has not been previously reported.
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