G11778A和T14484C型Leber遺傳性視神經(jīng)病變的臨床特點分析
發(fā)布時間：2018-08-11 15:13
【摘要】：目的 通過比較G11778A型和T14484C型Leber遺傳性視神經(jīng)病變(Leber Hereditary Optic Neuropathy, LHON)的臨床特點,并分析兩者萎縮期的眼科輔助檢查結(jié)果如視野、光學(xué)相干斷層掃描(Optical Coherence Tomography, OCT)等更深刻地認識本病。 方法 收集2012年8月至2013年10月在我院就診確診為LHON的8例患者的臨床資料,依據(jù)線粒體DNA突變基因型將患者分為G11778A型(共4例,G11778A組)和T14484C型(共4例,T14484C組)。2組患者于2014年2月至4月來我復(fù)診并復(fù)查視力、視野及光學(xué)相干斷層掃描OCT等。根據(jù)以上臨床資料及輔助檢查結(jié)果比較兩組患者臨床表現(xiàn)特點的異同,分析兩組患者視網(wǎng)膜神經(jīng)纖維厚度(Retinal nerve fiber layer thickness, RNFLT)的變化特點。 結(jié)果 G11778A組平均發(fā)病年齡(15.75±2.05歲)較T14484C組平均發(fā)病年齡(21.75±10.06歲)早。G11778A組和T14484C組臨床表現(xiàn)及眼底表現(xiàn)相似,但T14484C組部分患者最佳矯正視力可有較明顯改善。G11778A組可有瞳孔散大、對光反應(yīng)遲鈍、眼球輕震顫、廢用性外斜等前節(jié)異常表現(xiàn)。全身表現(xiàn)可發(fā)現(xiàn)有雙手姿勢性震顫。T14484C組未發(fā)現(xiàn)以上異常表現(xiàn)。 G11778A組視野缺損較T14484C組嚴重,以全中心視野彌漫性缺損為主。 G11778A組組上側(cè)、下側(cè)象限和平均RNFLT較T14484C組薄,差異顯著(P=0.000,P=0.002,P=0.002),顳側(cè)和鼻側(cè)RNFLT與T14484C組相比均無顯著的統(tǒng)計學(xué)差異(P=0.650,P=0.137)。 結(jié)論 1、G11778A型和T14484C型LHON患者眼科臨床表現(xiàn)有相似點,但兩者發(fā)病年齡、眼前節(jié)、全身表現(xiàn)和視野缺損程度不盡相同。 2、T14484C型部分患者存在最佳矯正視力明顯改善的情況。 3、G11778A型LHON患者上側(cè)、下側(cè)和平均視網(wǎng)膜神經(jīng)纖維層厚度較T14484C型LHON患者更薄,萎縮更明顯。兩者顳側(cè)和鼻側(cè)平均視網(wǎng)膜神經(jīng)纖維層厚度則無明顯差異。不同的基因型對RNFL萎縮程度的影響仍存有疑問,尚需進一步統(tǒng)計研究。
[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 鹵2.05 years) was earlier than that in group T14484C (21.75 鹵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.
【學(xué)位授予單位】：浙江大學(xué)
【學(xué)位級別】：博士
【學(xué)位授予年份】：2014
【分類號】：R774.6
本文編號：2177371
[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 鹵2.05 years) was earlier than that in group T14484C (21.75 鹵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.
【學(xué)位授予單位】：浙江大學(xué)
【學(xué)位級別】：博士
【學(xué)位授予年份】：2014
【分類號】：R774.6
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