A Case of Leber Hereditary Optic Neuropathy Showing Optic Disc Hyperfluorescence.

Park, Yu Jeong; Lim, Hyun Taek

doi:2019.60.1.96

J Korean Ophthalmol Soc > Volume 60(1); 2019 > Article

Case Report

Journal of the Korean Ophthalmological Society 2019;60(1):96-101.
DOI: https://doi.org/10.3341/jkos.2019.60.1.96 Published online January 15, 2019.

A Case of Leber Hereditary Optic Neuropathy Showing Optic Disc Hyperfluorescence.

Yu Jeong Park, Hyun Taek Lim

Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. htlim@amc.seoul.kr

형광안저혈관조영술상 시신경유두 과형광을 보이는 레버유전시신경병증 1예

박유정⋅임현택

울산대학교 의과대학 서울아산병원 안과학교실

Correspondence: Hyun Taek Lim,
Email: htlim@amc.seoul.kr

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

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.

Key Words: Fluorescein angiography;Leber hereditary optic neuropathy;Optic atrophy