论文部分内容阅读
Leber氏病是一种家族性视神经病变,主要侵犯男性青年,最终引起双侧视神经萎缩。遗传方式难以确定,也不能以性连隐性遗传加以解释。其遗传可能是以非染色体方式,亦可能是一种慢病毒样因素的传递。最近一6代家族之14例患者及40例无症状者进行临床研究及视觉诱发电位(VEP)记录。14例患者中12例双眼,2例单眼罹病。视力损害严重的患者,视觉诱发电位双侧消失,而较轻的患者,其反应延迟、不同步、且比正常者要小得多。临床上罹病者的视觉诱发电位情况与严重的视神经脱髓鞘病变者一致。
Leber’s disease is a familial optic neuropathy that mainly affects male youth and ultimately causes bilateral optic atrophy. Genetics is difficult to determine, nor can it be explained in terms of sex and implicit inheritance. Its inheritance may be non-chromosomal, it may be a lentivirus-like factor of transmission. Clinical studies and visual evoked potential (VEP) recordings were performed in 14 patients and 40 asymptomatic individuals in the last six generations of the family. Twelve of the 14 patients had binocular and two patients had monocular disease. In patients with severe visual impairment, the visual evoked potentials disappear on both sides, whereas in the younger patients, the response is delayed, unsynchronized, and much smaller than in normal subjects. The visual evoked potential of clinically diseased patients is consistent with severe demyelinating lesions of the optic nerve.