미토콘드리아 DNA T14484C 점돌연변이를 가진 한국인 레버유전시신경병증의 시기능 예후

• 영문명: Visual Prognosis of Leber’s Hereditary Optic Neuropathy with T14484C Mitochondrial DNA Mutation in Koreans
• 발행기관: 대한안과학회
• 저자명: 김미정 박성섭 황정민,Mi Jeung Kim, MD, Sung Sup Park, MD, Jeong-Min Hwang, MD,
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume53,number1, 151~156쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2012.01.15

영문 초록

Purpose: In order to evaluate the clinical features and visual prognosis of Leber’s hereditary optic neuropathy (LHON) associated with T14484C mitochondrial DNA (mtDNA) mutation in Korean patients. Methods: To evaluate the clinical feature of Korean LHON patients with T14484C mtDNA mutation, a retrospective chart review was performed on 14 patients who visited our clinic with the chief complaint of decreased visual acuity. Results: All of the 14 patients experienced a significant decrease in visual acuity during the follow-up period. Eight of these patients (57%) showed an improvement in visual acuity of 20/50 or better in one or both eyes, and the remaining six patients (43%) showed visual acuities of 20/200 or worse in both eyes at the final follow-up. When the symptoms aggravated, ten patients (71%) showed central scotoma or cecocentral scotoma. Eleven of 12 patients (92%) who had undergone the Ishihara color vision test showed dyschromatopsia in the aggravated stage. Four patients had dyschromatopsia and three patients had central scotoma in both eyes even after visual recovery. There were no statistically significant differences in the age of onset or the nadir of visual acuity between the good visual recovery group and the non-recovery group (p > 0.05). Conclusions: Korean LHON patients with the T14484C mutation showed relatively good visual prognosis similar to those of the Caucasian or Japanese patients but with remaining dyschromatopsia or central scotoma after visual recovery. J Korean Ophthalmol Soc 2012;53(1):151-156

키워드

T14484C mutation, Koreans, Leber’s hereditary optic neuropathy, Visual functional prognosis