G11778A和T14484C型Leber遗传性视神经病变的临床特点分析

发布时间：2018-08-11 15:13

【摘要】：目的通过比较G11778A型和T14484C型Leber遗传性视神经病变(Leber Hereditary Optic Neuropathy, LHON)的临床特点,并分析两者萎缩期的眼科辅助检查结果如视野、光学相干断层扫描(Optical Coherence Tomography, OCT)等更深刻地认识本病。方法收集2012年8月至2013年10月在我院就诊确诊为LHON的8例患者的临床资料,依据线粒体DNA突变基因型将患者分为G11778A型(共4例,G11778A组)和T14484C型(共4例,T14484C组)。2组患者于2014年2月至4月来我复诊并复查视力、视野及光学相干断层扫描OCT等。根据以上临床资料及辅助检查结果比较两组患者临床表现特点的异同,分析两组患者视网膜神经纤维厚度(Retinal nerve fiber layer thickness, RNFLT)的变化特点。结果 G11778A组平均发病年龄(15.75±2.05岁)较T14484C组平均发病年龄(21.75±10.06岁)早。G11778A组和T14484C组临床表现及眼底表现相似,但T14484C组部分患者最佳矫正视力可有较明显改善。G11778A组可有瞳孔散大、对光反应迟钝、眼球轻震颤、废用性外斜等前节异常表现。全身表现可发现有双手姿势性震颤。T14484C组未发现以上异常表现。 G11778A组视野缺损较T14484C组严重,以全中心视野弥漫性缺损为主。 G11778A组组上侧、下侧象限和平均RNFLT较T14484C组薄,差异显著(P=0.000,P=0.002,P=0.002),颞侧和鼻侧RNFLT与T14484C组相比均无显著的统计学差异(P=0.650,P=0.137)。结论 1、G11778A型和T14484C型LHON患者眼科临床表现有相似点,但两者发病年龄、眼前节、全身表现和视野缺损程度不尽相同。 2、T14484C型部分患者存在最佳矫正视力明显改善的情况。 3、G11778A型LHON患者上侧、下侧和平均视网膜神经纤维层厚度较T14484C型LHON患者更薄,萎缩更明显。两者颞侧和鼻侧平均视网膜神经纤维层厚度则无明显差异。不同的基因型对RNFL萎缩程度的影响仍存有疑问,尚需进一步统计研究。
[Abstract]:Objective to compare the clinical features of Leber hereditary optic neuropathy (Leber Hereditary Optic Neuropathy, LHON) between type G11778A and type T14484C, and to analyze the results of ophthalmological auxiliary examination in the atrophy period, such as visual field. Optical coherence tomography (Optical Coherence Tomography, OCT) is a better understanding of the disease. Methods the clinical data of 8 patients with LHON diagnosed in our hospital from August 2012 to October 2013 were collected. According to the mitochondrial DNA mutation genotype, the patients were divided into two groups: G11778A (4 patients with G11778A) and T14484C (4 patients with T14484C). From February to April 2014, I returned to my clinic and reviewed my visual acuity, visual field and optical coherence tomography (OCT). According to the above clinical data and the results of auxiliary examination, the characteristics of (Retinal nerve fiber layer thickness, RNFLT) in retinal nerve fiber thickness were analyzed and compared between the two groups. Results the mean age of onset in group G11778A (15.75 卤2.05 years) was earlier than that in group T14484C (21.75 卤10.06 years). The clinical manifestations and fundus manifestations of group G11778A and T14484C were similar, but the best corrected visual acuity (BCVA) in group T14484C was significantly improved. Abnormal features of anterior ganglia such as light response, light nystagmus, deactivated exotropia and so on. There was no abnormal appearance in group T14484C. The visual field defect in group G11778A was more serious than that in group T14484C. the diffuse defect of the whole central visual field was dominant in group G11778A, and the upper side in group G11778A. The lower quadrant and average RNFLT were thinner than those in T14484C group (P = 0.000, P 0.002). There was no significant difference in RNFLT between temporal and nasal side compared with T14484C group (P = 0.650, P = 0.137). Conclusion (1) the clinical manifestations of LHON patients with G11778A and T14484C are similar, but the onset age and anterior segment of the patients are similar. There was significant improvement in the best corrected visual acuity in some patients with T14484C. 3 cases with G11778A LHON had superior side. The thickness of the lower and average retinal nerve fiber layer was thinner and more atrophy than that of type T 14484C LHON. There was no significant difference in the mean retinal nerve fiber layer thickness between the temporal and nasal sides. The effect of different genotypes on RNFL atrophy is still in doubt, and further statistical research is needed.
【学位授予单位】：浙江大学
【学位级别】：博士
【学位授予年份】：2014
【分类号】：R774.6

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