Sugisaka Eiko, Ohde Hisao, Shinoda Kei, Mashima Yukihiko
Clin Exp Ophthalmol. 2007 Dec;35(9):868-70. doi: 10.1111/j.1442-9071.2007.01628.x.
We describe a patient with Leber's hereditary optic neuropathy (LHON) who had a unilateral involvement and a gradual recovery of vision. A 50-year-old woman was referred to our clinic in December 2004 for the treatment of left optic neuritis. The visual acuity was 0.01 in her left eye and 1.5 in her right eye. The left eye had a central scotoma and a relative afferent pupillary defect. Ophthalmoscopy revealed a hyperaemic optic disc with indistinct margins in the left eye. Fluorescein angiography showed circumpapillary microangiopathy in both eyes and staining of the left optic disc. An nt 11778 mutation was identified and she was diagnosed with LHON. The central scotoma gradually improved, and the visual acuity had recovered to 0.3 in August 2007. LHON should still be considered even in older female patients presenting with unilateral acute visual loss when microangiopathy is seen. In such cases, molecular testing is effective in confirming a diagnosis of LHON.
我们描述了一位患有Leber遗传性视神经病变（LHON）的患者，其表现为单眼受累且视力逐渐恢复。一名50岁女性于2004年12月因左眼视神经炎被转诊至我院。其左眼视力为0.01，右眼视力为1.5。左眼有中心暗点和相对传入性瞳孔障碍。眼底检查显示左眼视盘充血，边界不清。荧光素血管造影显示双眼视盘周围微血管病变以及左眼视盘染色。检测到nt 11778突变，她被诊断为LHON。中心暗点逐渐改善，到2007年8月时视力已恢复至0.3。对于出现单眼急性视力丧失且伴有微血管病变的老年女性患者，即使年龄较大也仍应考虑LHON。在这种情况下，分子检测有助于确诊LHON。
