■Leber遗传性视神经病变(LHON)是一种线粒体疾病,通常表现为无痛性,中央视力丧失,视神经乳头充血,和毛细血管周围扩张.大多数LHON病例是由于三种变体之一,但也存在一些不太常见的变体。我们描述了与变异m.3866T>C相关的LHON临床病例,这可能与LHON有关。
■一名59岁的白人女性经历了急性,双边,和无痛的视力丧失。她报告说吸烟,和磷脂酰乙醇升高表明有害饮酒。她的最佳矫正视力(BCVA)右眼为20/100,左眼为20/50。她只能读石原示范板,和阈值视野检查显示两侧中央灵敏度降低。她的视神经头有高血病,伴有乳头状毛细血管扩张。视觉症状和临床表现提示LHON。磁共振成像显示一个结节鞍区脑膜瘤和两个脑动脉瘤,我们认为这是偶然的发现。基因检测没有发现常见的LHON变异,而是一种罕见的同质变异,m.3866T>C,研究表明,这可能导致LHON或与其他变体协同作用,以增加疾病的外显率。在开始每天900毫克的艾地苯醌治疗试验后,患者的双眼BCVA改善至20/32,然后稳定下来。
■此案例加强了m.3866T>C作为致病LHON变体的证据。此案还提出了一个问题,即这种特定的变体是否可以对艾地苯醌治疗做出积极反应。
UNASSIGNED: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder that typically presents with painless, central visual loss, hyperaemia of the optic nerve head, and peripapillary telangiectasias. Most LHON cases are due to one of three variants, but several less common variants also exist. We describe a clinical
case of LHON associated with the variant m.3866T>C, which is possibly linked to LHON.
UNASSIGNED: A 59-year-old Caucasian woman experienced acute, bilateral, and painless visual loss. She reported cigarette smoking, and elevated phosphatidylethanol suggested harmful alcohol consumption. Her best-corrected visual acuity (BCVA) was 20/100 for the right eye and 20/50 for the left eye. She could only read the Ishihara demonstration plate, and threshold perimetry demonstrated reduced central sensitivity bilaterally. Her optic nerve heads were hyperaemic, with peripapillary telangiectasias. The visual symptoms and clinical findings suggested LHON. Magnetic resonance imaging demonstrated a tuberculum sella meningioma and two cerebral aneurysms, which we regarded as incidental findings. Genetic testing did not identify common LHON variants but a rare homoplasmic variant, m.3866T>C, which studies suggest might cause LHON or act in synergy with other variants to increase the disease penetrance. After initiating test-of-treatment with
idebenone 900 mg per day, the patient\'s BCVA improved to 20/32 for both eyes and then stabilized.
UNASSIGNED: This
case strengthens the evidence for m.3866T>C as a causative LHON variant. The
case also raises the question as to whether this particular variant can respond favourably to treatment with
idebenone.