Sugiura Kayo, Ishimaru Shimpei, Fukuda Ken
Department of Ophthalmology and Visual Science, Kochi Medical School, Kochi University, Nankoku City, Kochi, Japan.
Ishimaru Eye Clinic, Kochi City, Kochi, Japan.
Am J Ophthalmol Case Rep. 2022 Jan 20;25:101263. doi: 10.1016/j.ajoc.2022.101263. eCollection 2022 Mar.
Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial disease characterized by painless vision loss affecting both eyes. The disease usually develops in both eyes within weeks to months of onset. We report a case of LHON who presented with unilateral vision loss in childhood with an interval of more than 30 years between vision loss in the two eyes.
A 43-year-old man presented with a 1-month history of vision loss in his right eye. At 9 years of age, his visual acuity in the left eye declined, and he had been treated with glaucoma eyedrops bilaterally at his eye clinic. At his first visit to our hospital, his BCVA was 0.15 in the right eye and 0.1 in the left eye, and critical flicker frequency was 16 Hz in the right eye and 15 Hz in the left eye, and he was negative for a relative afferent pupillary defect. The Goldman visual field showed central scotoma in both eyes. Fundus examination revealed slight redness of the right optic disc with meandering retinal small vessels, and the left optic disc had a slight pallor. Fluorescein angiography could not be performed because of liver dysfunction. OCT showed prominent bilateral thinning of the RNFL and retinal ganglion cell layer. Enhancement of the optic nerve was not apparent on orbital gadolinium-enhanced magnetic resonance imaging. Hematologic analysis revealed macrocytic anemia and low levels of vitamin B12 and folate. His mother had a presumptive diagnosis of LHON but did not receive genetic testing. A male cousin also had severe vision loss. Based on the likely family history of LHON, we performed genetic testing, which revealed the 11778 mitochondrial point mutation associated with this condition.
We report a case of LHON with 34 years interval in vision loss in the fellow eye. LHON may develop in the second eye decades after its onset in the first. Detailed medical interviews and scrutiny, such as examination of family history, are warranted in consideration of LHON.
Leber遗传性视神经病变（LHON）是一种遗传性线粒体疾病，其特征为双眼无痛性视力丧失。该病通常在发病后数周或数月内累及双眼。我们报告1例LHON患者，其在儿童期出现单眼视力丧失，双眼视力丧失间隔超过30年。
一名43岁男性因右眼视力丧失1个月前来就诊。9岁时，其左眼视力下降，曾在眼科诊所接受双侧青光眼眼药水治疗。首次来我院就诊时，其右眼最佳矫正视力（BCVA）为0.15，左眼为0.1，右眼临界闪烁频率为16Hz，左眼为15Hz，相对性传入性瞳孔障碍检查为阴性。Goldman视野检查显示双眼中央暗点。眼底检查发现右眼视盘轻度发红，视网膜小血管迂曲，左眼视盘轻度苍白。因肝功能障碍无法进行荧光素血管造影。光学相干断层扫描（OCT）显示视网膜神经纤维层（RNFL）和视网膜神经节细胞层双侧明显变薄。眼眶钆增强磁共振成像未显示视神经强化。血液学分析显示大细胞性贫血以及维生素B12和叶酸水平低。其母亲疑似诊断为LHON，但未接受基因检测。一名男性表弟也有严重视力丧失。基于可能的LHON家族史，我们进行了基因检测，结果显示存在与该病相关的11778线粒体点突变。
我们报告1例LHON患者，其双眼视力丧失间隔34年。LHON可能在第一眼发病数十年后在第二眼发病。考虑到LHON，进行详细医学访谈和仔细检查（如家族史检查）是必要的。
