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Kim, Park, and Hwang: Visual Prognosis of Leber's Hereditary Optic Neuropathy with T14484C Mitochondrial DNA Mutation in Koreans
Original Article
Journal of the Korean Ophthalmological Society

Journal of the Korean Ophthalmological Society 2012; 53(1): 151-156.

Published online: 16 January 2012

DOI: https://doi.org/10.3341/jkos.2012.53.1.151

Visual Prognosis of Leber's Hereditary Optic Neuropathy with T14484C Mitochondrial DNA Mutation in Koreans

Mi Jeung Kim, MD1, Sung Sup Park, MD2, Jeong-Min Hwang, MD1, 3

1Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.

2Department of Clinical Pathology, Seoul National University College of Medicine, Seoul, Korea.

3Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Korea.

Address reprint requests to Jeong-Min Hwang, MD. Department of Ophthalmology, Seoul National University Bundang Hospital, #166 Gumi-ro, Bundang-gu, Seongnam 463-707, Korea. Tel: 82-31-787-7372, Fax: 82-31-787-4057, hjm@snu.ac.kr

Received 24 February 2011       Accepted 12 November 2011

Copyright © 2012 The Korean Ophthalmological Society

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.

Keywords: T14484C mutation, Koreans, Leber's hereditary optic neuropathy, Visual functional prognosis

Figures and Tables

Figure 1
Changes in visual acuity of T14484C mutation group.
jkos-53-151-g001
Table 1
Demographic factors and clinical course of T14484C mutations in Korean LHON patients
jkos-53-151-i001

*Sex: M = male; F = female; †Age: Age at the last follow-up; ‡Visual acuity: Initial = first examination by an ophthalmologist; Worst = worst during follow-up; Final = most recent follow-up; FC= finger count; §Visual field: C = central scotoma; CC = cecocentral scotoma; N = normal; NC = non-checkable; U = unknown; ∥Ishihara color vision test: U = unknown.

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