A Case of Leber Hereditary Optic Neuropathy Showing Optic Disc Hyperfluorescence
10.3341/jkos.2019.60.1.96
- Author:
Yu Jeong PARK
1
;
Hyun Taek LIM
Author Information
1. Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. htlim@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Fluorescein angiography;
Leber hereditary optic neuropathy;
Optic atrophy
- MeSH:
Adolescent;
Brain;
DNA, Mitochondrial;
Edema;
Fingers;
Fluorescein Angiography;
Humans;
Hyperemia;
Magnetic Resonance Imaging;
Male;
Optic Atrophy;
Optic Atrophy, Hereditary, Leber;
Optic Nerve Diseases;
Optic Neuritis;
Spinal Cord;
Spinal Puncture;
Visual Acuity
- From:Journal of the Korean Ophthalmological Society
2019;60(1):96-101
- CountryRepublic of Korea
- Language:Korean
-
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.
