Naghizadeh Farzaneh, Varga Edina Tímea, Molnár Mária Judit, Holló Gábor
Ideggyogy Sz. 2014 Sep 30;67(9-10):335-41.
Mitochondrial (mt) disorders are metabolic conditions with multiorgan involvement, which often cause neuroophtalmological symptoms. The aim of the study was to investigate the relation between progressive external ophthalmoplegia (PEO), visual pathway and mitochondrial DNA (mtDNA) mutations in patients younger than 55 years of age.
Five female patients (35 to 53 years of age) with mithochondrial disease were investigated. Automated threshold perimetry (Octopus G2 test), scanning laser polarimetry (GDx-VCC and GDx-ECC) and Fourier-domain optical coherence tomography (RTVue-100 OCT) were used in addition to detailed ophthalmological examination and evaluation of visually evoked potentials (VEP). Frequent mutations of the mtDNA were investigated in the patients' blood and muscle samples.
PEO of various severity levels was found in all patients, using clinical tests. Genetic testing showed "common deletion" of mtDNA in all cases. For both eyes of 4 patients functional and structural ophthalmic tests had normal results. In one patient decreased visual acuity, reduced retinal nerve fiber layer thickness and prolonged L3 VEP latency time were found without optic disc damage and visual field deterioration.
In 4 of our 5 patients with PEO due to common deletion of mtDNA retinal ganglion cells and visual function remained normal for a long period of life.
线粒体疾病是累及多器官的代谢性疾病，常引起神经眼科症状。本研究旨在调查55岁以下患者的进行性眼外肌麻痹（PEO）、视觉通路与线粒体DNA（mtDNA）突变之间的关系。
对5例（年龄35至53岁）线粒体疾病女性患者进行研究。除详细的眼科检查和视觉诱发电位（VEP）评估外，还使用了自动阈值视野计（Octopus G2测试）、扫描激光偏振仪（GDx-VCC和GDx-ECC）以及傅里叶域光学相干断层扫描（RTVue-100 OCT）。对患者的血液和肌肉样本进行mtDNA常见突变的检测。
通过临床检查发现所有患者均有不同严重程度的PEO。基因检测显示所有病例均存在mtDNA“共同缺失”。4例患者双眼的功能性和结构性眼科检查结果正常。1例患者视力下降、视网膜神经纤维层厚度降低、L3 VEP潜伏期延长，但无视盘损害和视野恶化。
在我们5例因mtDNA共同缺失导致PEO的患者中，有4例患者的视网膜神经节细胞和视觉功能在很长一段时间内保持正常。
