미토콘드리아 DNA T14484C 점돌연변이를 가진 한국인 레버유전시신경병증의 시기능 예후
Visual Prognosis of Leber’s Hereditary Optic Neuropathy with T14484C Mitochondrial DNA Mutation in Koreans
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목적: 미토콘드리아 DNA T14484C 점돌연변이를 가진 한국인 레버유전시신경병증의 임상양상 및 시기능 예후를 알아보고자 하였다. 대상과 방법: 시력저하를 주소로 내원하여 분자유전검사로 미토콘드리아 DNA의 T14484C 점돌연변이가 확인된 14명을 대상으로 의무기록을 후향적으로 조사하여 임상양상을 분석하였다. 결과: 14명 모두 유의한 시력저하를 보였으며 최종관찰 시 단안 또는 양안의 시력이 0.4 이상으로 회복된 경우가 8명(57%), 양안 모두0.1 이하인 경우가 6명(43%)이었다. 증상악화기 시야검사에서 단안 또는 양안의 중심암점, 주시점맹점암점을 보이는 경우가 10명(71%)있었다. 증상악화기 Ishihara 색각검사를 시행한 12명 중 11명(92%)에서 색각이상이 있었다. 최종관찰 시 시력이 호전된 8명 중 4명에서 양안 색각이상이, 3명에서 양안 중심암점이 계속되었다. 시력호전군과 비호전군의 최초 증상발생연령 및 악화기 최저시력에는 차이가 없었다(p＞0.05). 결론: T14484C 점돌연변이와 관련된 한국인 레버유전시신경병증 환자는 코커서스계나 일본인과 비슷하게 양호한 시력예후를 보였으며 중심시력이 호전된 경우에도 일부에서 색각이상이나 중심암점이 남았다.
Abstract
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.
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