Leber遗传性视神经病变24例临床分析

Clinical Analysis of 24 Cases of Leber's Hereditary Optic Neuropathy

回顾分析了 2 4例 ( 4 8眼 )Leber遗传性视神经病变的临床特征。患者年龄从 1 2岁到 44岁 ,平均 ( 2 0 3± 7 2 )岁 ,男性占 83%。发病典型者多为 1眼无痛性视力下降。视力下降程度从眼前手动到 1 2 ,其中 40眼 ( 83% )≤ 0 1。视野缺损主要为中心暗点或旁中心暗点 ,色觉障碍严重。本组部分病例发病早期有特征性眼底改变 ,包括视盘明显充血 ,视盘周围小血管扩张迂曲 ,神经纤维层水肿。眼底荧光血管造影视盘及盘缘血管无荧光素渗漏。

A retrospective study on the clinical features of 24 cases of Leber's hereditary optic neuropathy involving 48 eyes was carried out. The patients aged from 12 to 44 years, with an average age of 20 3±7 2, and the male made up 83% of the patients. The typical cases were mostly with painless visual loss in 1 eye. The range of visual loss was from before-the-eye hand sway to 1.2; the visual acuity of 40 eyes was equal to or less than 0.1; the visual field defect was chiefly of central or pericentral scotoma; and the color sensation was severely affected. In some patients, at the early stage of the disease, there were fundus pathological changes characterized by obvious hyperemia of the optic disc, dilation and tortuosity of the small vessels around the optic disc, edema of the nerve fiber layer around the optic disc, and no leakage of fluorescein from the optic disc and the vessels in the marginal region of the optic disc detected by the fundus fluorescent angiography.