Leber的遗传性视神经病是一种遗传性线粒体疾病。到目前为止,还没有建立有效的治疗方法,目前基因治疗是最有前途的。因为这种疾病有自发视力恢复的可能性,我们在基因治疗前筛查患者,不包括那些自发视力改善的人,并为随后的基因治疗做准备。
在基因治疗前6个月临床观察Leber遗传性视神经病变的病程。
66例Leber遗传性视神经病变患者纳入研究。根据疾病持续时间对患者进行分类:少于24个月和超过24个月。在1年内进行了三次临床随访检查。我们评估了眼压,视敏度,视野,视网膜神经纤维层厚度,眼底照片,和视觉诱发电位。
八十二只眼睛显示出稳定的视力,包括34例患者的双眼和14例患者的一只眼;22例患者的33只眼显示视力下降(少于24个月:24只眼;超过24个月:9只眼);12例患者的17只眼显示视力改善(少于24个月:4只眼;超过24个月:13只眼)。视力和视野指数在疾病发作后的24个月内下降,并在24个月后保持稳定。
大多数Leber遗传性视神经病变患者随着发病时间的延长,视功能逐渐稳定,自发视力恢复的可能性较低,为今后评估基因治疗的有效性提供了依据。
Leber\'s hereditary optic neuropathy is a hereditary mitochondrial disease. No effective treatment has so far been established, with gene therapy currently being the most promising. Because of the possibility of spontaneous visual acuity recovery in this disease, we screened patients before gene therapy, excluding those with spontaneous visual acuity improvement, and prepared for the subsequent gene therapy.
To clinically observe the course of Leber\'s hereditary optic neuropathy for 6 months prior to gene therapy.
Sixty-six patients with Leber\'s hereditary optic neuropathy were enrolled in the study. Patients were classified based on the duration of disease: less than 24 months and over 24 months. Three clinical follow-up examinations were conducted over 1 year. We assessed intraocular pressure, visual acuity, visual field, retinal nerve fiber layer thickness, fundus photographs, and visual evoked potential.
Eighty-two eyes displayed stable visual acuity, including both eyes in 34 patients and one eye in 14 patients; 33 eyes of 22 patients displayed decrease in visual acuity (less than 24 months: 24 eyes; over 24 months: nine eyes); and 17 eyes of 12 patients showed improvement in visual acuity (less than 24 months: four eyes; over 24 months: 13 eyes). Visual acuity and visual field indices decreased over 24 months from disease onset and appeared stable after 24 months.
Most patients with Leber\'s hereditary optic neuropathy gradually stabilize visual function with prolonged onset time, and the lower possibility of spontaneous vision recovery provides a basis for future evaluation of the effectiveness of gene therapy.