Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations
Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations
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DOI：
10.1016/j.ophtha.2004.09.033
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发表时间：
2005-01-01
期刊：
影响因子：
13.7
通讯作者：
Carelli, V
中科院分区：
文献类型：
--
作者：
Savini, G;Barboni, P;Carelli, V
目的：为了研究视网膜神经纤维层（RNFL）的厚度光学相干断层扫描（OCT）在未受影响的运营商与Leber的遗传性视神经病变（LHON）mutations.Design：横断面study.Participants：六十六个未受影响的运营商（44名女性和22名男性）进行了分析，并与年龄匹配的对照组70例（40名女性和30名男性）进行了比较。在根据性别对患者和对照组进行分组后进行统计分析，并且仅对于未受影响的携带者，进行线粒体DNA突变。（3.4）使用扫描采集协议。主要结果测量：通过OCT测量的视网膜神经纤维层厚度。与对照组相比，未受影响的男性携带者在颞区和下象限以及3600平均测量中显示出较厚的RNFL（分别为P = 0.025、P = 0.03和P = 0.018）。这些差异在携带11778突变的受试者中达到统计学显著性，而在携带3460突变的受试者中仅检测到趋势。与对照组相比，未受影响的女性携带者的颞象限厚度增加（P = 0.003），其他测量值无差异。增加颞部的女性与11778突变有统计学意义，而在那些与3460 mutation.Conclusions：增厚的颞纤维检测在所有亚组的未受影响的运营商的趋势。这是第一个证据表明乳头状斑束优先参与亚临床LHON。这一概念以前是基于急性LHON颞象限的早期纤维丢失和组织病理学中小口径纤维的选择性丢失。我们的研究还表明，男性比女性有更广泛的参与。(C)2005年，美国眼科学会。
Purpose: To study retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (OCT) in unaffected carriers with Leber's hereditary optic neuropathy (LHON) mutations.Design: Cross-sectional study.Participants: Sixty-six unaffected carriers (44 females and 22 males) were analyzed and compared with an age-matched control group of 70 patients (40 females and 30 males). The statistical analysis was performed after grouping both the patients and the control group on the basis of gender and, for unaffected carriers only, mitochondrial DNA mutation.Methods: The Fast RNFL Thickness (3.4) scan acquisition protocol was used.Main Outcome Measure: Retinal nerve fiber layer thickness as measured by OCT.Results: With respect to the control group, unaffected male carriers showed a thicker RNFL in the temporal and inferior quadrants and in the 3600 average measurement (P = 0.025, P = 0.03, and P = 0.018, respectively). These differences reached statistical significance in subjects carrying the 11778 mutation, whereas only a trend was detected in those with the 3460 mutation. Unaffected female carriers had an increased thickness in the temporal quadrant when compared with the control group (P = 0.003) and no differences in the other measurements. The increase in temporal sectors was statistically significant in females with the 11778 mutation, whereas a trend was detected in those with the 3460 mutation.Conclusions: A thickening of the temporal fibers was detected in all subgroups of unaffected carriers. This is the first evidence indicating the preferential involvement of the papillomacular bundle in subclinical LHON. This notion previously was based on the early loss of fibers from the temporal quadrant in acute LHON and the selective loss of small-caliber fibers at histopathology. Our study also revealed that males have a more diffuse involvement than females. (C) 2005 by the American Academy of Ophthalmology.