정상안압녹내장 환자에서 발생한 레베르씨 유전 시신경병증 1예
Leber's Hereditary Optic Neuropathy in a Patient Diagnosed With Normal Tension Glaucoma: A Case Report
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서론: 정상안압녹내장을 지닌 중년 남자에서 유전자 검사 결과 LHON으로 확진한 1예를 경험하였기에 보고하고자 한다. 증례요약: 48세 남자가 좌안 시력 저하를 주소로 내원하였다. 교정 시력은 우안 1.2, 좌안 0.4이었으며 안압은 정상이었다. 안저 사진에 서 양안 망막신경섬유층결손 및 시신경유두테패임과 이에 상응하는 시야결손이 관찰되어 정상안압녹내장으로 진단하였다. 2개월 후 좌안 교정 시력은 안전수지로 악화되었으며 시야검사에서 좌안에 중심암점이 관찰되었다. 4개월 후에는 우안 교정 시력이 0.2로 악화 되었으며 시야검사에서 우안에 주시점맹점암점이 관찰되었다. 안저 사진에서 좌안에 시신경유두황반다발 결손이 관찰되었다. 7개월 후에 교정 시력은 우안 안전수동, 좌안 안전수지로 악화되었으며, LHON 유전자검사에서 11778 돌연변이 양성 소견을 보여 LHON 으로 확진하였다. 결론: 녹내장 등의 다른 시신경 이상이 있는 눈에서 LHON이 발생한다면 진단에 혼란을 겪을 수 있다. 녹내장 환자에서 중심암점의 발생, 시신경유두황반다발의 결손 등 비전형적인 임상양상을 보이는 경우 LHON의 가능성을 염두에 두고 유전자검사를 시행하는 것이 중요하다.
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.
참고문헌 (15)
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