| Leber's Hereditary Optic Neuropathy in a Patient Diagnosed With Normal Tension Glaucoma: A Case Report. |
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Sangmoon Lee, Jin Choi, Ji Woong Jang, Dong Myoung Kim, Seong Joon Kim |
1Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea. ophjun@gmail.com
2Seoul Artificial Eye Center, Seoul National University Hospital Clinical Research Institute, Seoul, Korea.
3Department of Ophthalmology, Inje University Ilsan Paik Hospital, Goyang, Korea. |
| 정상안압녹내장 환자에서 발생한 레베르씨 유전 시신경병증 1예 |
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이상문1,2ㆍ최진1,2ㆍ장지웅3ㆍ김동명1,2ㆍ김성준1,2 |
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Department of Ophthalmology, Seoul National University College of Medicine1, Seoul, Korea Seoul Artificial Eye Center, Seoul National University Hospital Clinical Research Institute2, Seoul, Korea Department of Ophthalmology, Inje University Ilsan Paik Hospital3, Goyang, Korea |
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| Abstract |
PURPOSE
Leber's hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA. The authors report a case of a middle-aged man with genetically confirmed LHON, combined with bilateral normal tension glaucoma (NTG). CASE SUMMARY: A 48-year-old man presented with complaints of decreased visual acuity in his left eye. His corrected visual acuity was 20/16 in the right eye and 20/63 in the left eye. The fundus photographs revealed a bilateral, superotemporal and inferotemporal retinal nerve fiber layer defect, corresponding to his visual field defect. The patient was diagnosed with bilateral NTG. After 2 months, the patient's corrected visual acuity in the left eye worsened to counting fingers and a central visual field defect was noticed in the Humphrey visual field test in the left eye. At 4 months after the initial visit, his corrected visual acuity in the right eye became 20/100, and the Goldmann visual field test demonstrated cecocentral scotoma. The fundus photographs showed a papillomacular bundle defect in his left eye. At 7 months after the initial visit, his visual acuity was hand movement in the right eye and a finger count in the left eye. A series of LHON gene mutation tests revealed a 11778 mitochondrial gene mutation, and the patient was diagnosed with LHON. CONCLUSIONS: Proper diagnosis of LHON might be disturbed by atypical manifestation of other optic nerve diseases, such as glaucoma. Therefore, suspecting LHON and checking for gene mutations as part of the work-up in patients with bilateral optic neuropathy is critical. |
| Key Words:
Leber's hereditary optic neuropathy;Normal tension glaucoma |
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