J Korean Ophthalmol Soc > Volume 53(1); 2012 > Article
Journal of the Korean Ophthalmological Society 2012;53(1):151-156.
DOI: https://doi.org/10.3341/jkos.2012.53.1.151    Published online January 15, 2012.
Visual Prognosis of Leber's Hereditary Optic Neuropathy with T14484C Mitochondrial DNA Mutation in Koreans.
Mi Jeung Kim, Sung Sup Park, Jeong Min Hwang
1Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea. hjm@snu.ac.kr
2Department of Clinical Pathology, Seoul National University College of Medicine, Seoul, Korea.
3Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Korea.
미토콘드리아 DNA T14484C 점돌연변이를 가진 한국인 레버유전시신경병증의 시기능 예후
김미정1⋅박성섭2⋅황정민1,3
Departments of Ophthalmology1, Clinical Pathology2, Seoul National University College of Medicine, Seoul, Korea Department of Ophthalmology, Seoul National University Bundang Hospital3, Seongnam, Korea
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.
Key Words: T14484C mutation;Koreans;Leber's hereditary optic neuropathy;Visual functional prognosis


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