A Case of Leber Hereditary Optic Neuropathy Showing Optic Disc Hyperfluorescence

Yu Jeong Park; Hyun Taek Lim

doi:10.3341/jkos.2019.60.1.96

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Park and Lim: A Case of Leber Hereditary Optic Neuropathy Showing Optic Disc Hyperfluorescence

Case Report

Journal of the Korean Ophthalmological Society 2019; 60(1): 96-101.

Published online: 16 January 2019

DOI: https://doi.org/10.3341/jkos.2019.60.1.96

A Case of Leber Hereditary Optic Neuropathy Showing Optic Disc Hyperfluorescence

Yu Jeong Park, MD, Hyun Taek Lim, MD, PhD

Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Address reprint requests to Hyun Taek Lim, MD, PhD. Department of Ophthalmology, Asan Medical Center, #88 Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea. Tel: 82-2-3010-3680, Fax: 82-2-470-6440, htlim@amc.seoul.kr

Received 6 September 2018 Revised 14 September 2018 Accepted 20 December 2018

The Korean Ophthalmological Society

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

We report an unusual case of Leber hereditary optic neuropathy presenting with optic disc hyperfluorescence.

Case summary

A 17-year-old male with sequential painless visual loss 3 weeks apart affecting first the left and then the right eye presented to our neuro-ophthalmology clinic. His best-corrected visual acuity was counting fingers in the right eye and 0.32 in the left eye. Fundus examination showed mild optic disc edema and hyperemia in both eyes, which were worse in the right eye. Fluorescein angiography revealed dye leakage from the right optic disc in the late phase. The results of magnetic resonance imaging of the brain and spinal cord were normal, and lumbar puncture study was unremarkable. Mitochondrial DNA sequencing revealed a pathognomonic 11778 mutation for Leber hereditary optic neuropathy. His vision deteriorated to 0.03 in both eyes 6 months later, but slowly started to improve 11 months after onset. At 2 years, his corrected visual acuity was 0.2 in both eyes.

Conclusions

To our knowledge, this is the first report of optic disc hyperfluorescence in Leber hereditary optic neuropathy. This finding suggests that this mitochondrial optic neuropathy can masquerade as optic neuritis.

Keywords: Fluorescein angiography, Leber hereditary optic neuropathy, Optic atrophy

Figures and Tables

Figure 1

Serial fundus photographs and fluorescein angiography of the patient. (A) Fundus photograph of the patient taken at the initial visit showing bilateral optic disc edema, hyperemia, and peripapillary telangiectasia, which was worse in the right eye. (B) Fluorescein angiogram taken at the initial visit revealed distinct leakage from the right optic disc in the late phase (9 minutes 44 seconds) (C) Fundus photograph taken at the two years follow-up showing diffuse optic disc pallor and peripapillary retinal nerve layer defects in both eyes.

Figure 2

Spectral-domain optical coherence tomograph of the patient at the initial visit. Note that the peripapillary RNFL thickness was increased in both eyes, which corresponded to the optic disc swelling shown in fundus photographs. RNFL = retinal nerve fiber layer; ONH = optic nerve head; OU = oculus uterque; OD = oculus dexter; OS = oculus sinister; C/D = cup/disc; TEMP = temporal; SUP = superior; NAS = nasal; INF = inferior; S = superior; N = nasal; I = inferior; T = temporal.

Figure 3

Mitochondrial DNA sequence chromatogram of the patient. A homoplasmy mutation, m.11778 G>A in MTND4 gene was found. The mutation was one of the common three primary mitochondrial DNA (mtDNA) point mutations causing Leber hereditary optic neuropathy. MTND4 = mitochondrial nicotinamide adenine dinucleotide - hydrogen dehydrogenase subunit 4.

Notes

^{Conflicts of Interest} The authors have no conflicts to disclose.

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