Leber hereditary optic neuropathy following head trauma and ocular trauma on contralateral eye: a case report
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CLINICAL CASE REPORT
Leber hereditary optic neuropathy following head trauma and ocular trauma on contralateral eye: a case report Hoon Dong Kim
Received: 28 August 2020 / Accepted: 5 October 2020 Ó The Author(s) 2020
Abstract Purpose To present a case of activation of Leber hereditary optic neuropathy (LHON) following head and ocular trauma of the fellow eye in the patient with no remarkable symptoms and normal visual acuity prior to trauma. Case summary A 31-year-old healthy man was referred to our hospital after a traffic accident. He had blowout fractures of medial and inferior orbital wall of the left eye, subcutaneous hematoma of the left forehead, and bony fragment that compressed the left optic nerve. Initially, best-corrected visual acuity (BCVA) was 20/20 in the right and 20/1000 in the left eyes. Relative afferent pupillary defect of the left eye was apparent, and fundus examination revealed choroidal rupture circumferentially crossing the macular area. Nine months later, the patient complained with gradual vision loss in the right eye, which was the contralateral eye of the ocular trauma. BCVA was 20/200, and perimetry revealed cecocentral scotoma in the right eye. BCVA in both eyes reduced to 20/2000 1 year post-trauma. Visual evoked potentials revealed markedly decreased in amplitudes and elongated latencies for both eyes. Mitochondrial DNA analysis
H. D. Kim (&) Department of Ophthalmology, College of Medicine, Soonchunhyang University, 30, Soonchunhyang 6-gil, Dongnam-gu, Cheonan-si, Chungcheongnam-do 31151, South Korea e-mail: [email protected]
revealed a G11778A mutation; therefore, a diagnosis of activation of LHON followed by trauma was made for the previously unaffected carrier. Conclusions This is a case in which activation of LHON occurred in a healthy carrier following head and ocular trauma of the fellow eye. This observation suggests the possibility that LHON activation in healthy carriers may occur in patients who experience head or ocular trauma even in the fellow eye. Keywords Leber hereditary optic neuropathy Optic nerve Trauma Visual evoked potentials
Introduction Leber hereditary optic neuropathy (LHON) is a mitochondrially inherited disorder affecting retinal ganglion cells (RGCs), which results in the degeneration of cells and their axons. It eventually induces acute or subacute bilateral central visual loss in patients, and predominantly affects young men [1–3]. Several mutations in LHON patients have been reported, and a G11778A mutation is the primary mutation in patients worldwide and identified in 90% of the Asian population [3, 4]. Visual loss in LHON patients associated with head or ocular trauma has been reported only rarely, and varying time intervals from trauma to visual loss have
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been observed [1, 2]. Unaffected LHON healthy carrier can become symptomatic as a result of activating triggers including smoking, alcohol abuse, and antibiotics such as macrolide, aminoglycoside, ethambutol, isonia
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