Leber遗传性视神经病变的光学相干层析成像特征及视力影响因素

Leber hereditary optic neuropathy—optical coherence tomography characteristics and influencing factors of visual outcome

目的 采用光学相干层析成像(OCT)观察不同病程阶段Leber遗传性视神经病变(LHON)患者内层视网膜结构的变化。方法 单中心队列研究。纳入2017年2月~2022年5月间在本院首次确诊的LHON患者,按照其病程分组,评估不同病程之间视网膜内层结构的差异,并分析视力的影响因素。结果 共纳入71例患者(142眼),年龄中位数18.0岁(P=11.5,P=30.0),其中未发病7眼(4.9%),病程<1个月28眼(19.7%),1~3个月46眼(32.4%),> 3个月61眼(43.0%)。小数视力中位数0.05(P=0.01,P=0.1)。OCT显示急性期视盘周围视网膜神经纤维层(RNFL)水肿增厚,随着时间的延长,厚度逐渐下降,至慢性期明显变薄。黄斑区神经节细胞-内丛状层(GCIPL)急性期即出现萎缩变薄,其厚度随病程持续下降。多因素回归分析结果显示,黄斑区GCIPL厚度和不同原发突变对最佳矫正视力(BCVA)的影响具有统计学意义。结论 LHON以乳斑束优先受累为特点,视网膜内层结构改变甚至早于视觉功能下降之前。黄斑区GCIPL和不同原发突变位点是视力的独立影响因素。

Objective To observe the inner retinal structural changes in patients with Leber hereditary optic neuropathy(LHON) at different stages of the disease by using optical coherence tomography(OCT). Methods A single-center cohort study. Patients with LHON who were first diagnosed at our hospital between February 2017 and May 2022 were included and grouped according to their disease stages. The differences in the inner retinal structure among different stages were evaluated, and the factors affecting visual acuity were analyzed. Results A total of 71 patients(142 eyes) were included, the median age was 18.0years(P=11.5,P=30.0), including 7 eyes(4.9%) with normal visual acuity, 28 eyes(19.7%) with disease duration <1 month, 46 eyes(32.4%) with duration 1-3 months, and 61 eyes(43.0%) with duration >3 months.The median visual acuity was 0.05(P=0.01, P=0.1). OCT showed thickening peripapillary retinal nerve fiber layer(RNFL) in the acute phase, which gradually decreased over time and became significantly thinner in the chronic phase. Atrophic thinning of the macular ganglion cell-internal plexiform layer(GCIPL) occurred in the acute phase, and its thickness continued to decline over the course of the disease. Multiple regression analysis showed significant impact of macular GCIPL thickness and different primary mutations on best corrected visual acuity(BCVA). Conclusions LHON is characterized by preferential involvement of the papillomacular bundle, and structural changes in the inner retinal layer preceding the decline in visual function. Macular GCIPL and different primary mutations are independent influence factors on visual acuity.