The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.
The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.
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从时间，空间和色素敏感性损失推断出OPA1相关常染色体显性视神经萎缩中视网膜神经节细胞损失的模式。
DOI：
10.1167/iovs.16-20309
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发表时间：
2017-01-01
影响因子：
4.4
通讯作者：
Stockman A
中科院分区：
文献类型：
--
作者：
Majander A;João C;Rider AT;Henning GB;Votruba M;Moore AT;Yu-Wai-Man P;Stockman A
进行性视网膜神经节细胞（RGC）丢失是致病性OPA 1突变引起的常染色体显性视神经萎缩（DOA）的病理标志。本研究的目的是进行深入的心理物理学研究的视觉损失DOA和推断任何选择性的视觉通路subserved不同RGC亚型的脆弱性。我们招募了25名携带致病性OPA 1突变的患者和年龄匹配的健康个体。空间对比敏感度函数（SCSF）和色彩对比敏感度进行了量化，后者使用剑桥颜色测试。在11例患者中，测量了长（L）和短（S）波长敏感的锥颞锐度作为目标照度的函数，以及L锥颞对比敏感度（TCSF）作为时间频率的函数。空间对比敏感度功能异常，随着空间频率的增加，敏感度的丧失增加。此外，最高的L-锥颞部敏锐度平均下降了10 Hz，TCSF下降了0.66 log 10单位。彩色阈值沿着的protan，deutan，和tritan轴分别比正常高8，9和14倍，分别与损失增加年龄和S锥颞敏度显示最显着的年龄相关性下降。侏儒小细胞，伞magnocellular，和bistilated koniocellular RGCs的损失可以解释的损失，高空间频率敏感性和protan和deutan的敏感性，高时间频率敏感性，S锥时间和tritan的敏感性，分别。随着患者年龄的增加，S-锥相关损失显示出显著恶化，因此可以证明DOA中疾病进展的有用生物标志物。
Progressive retinal ganglion cell (RGC) loss is the pathological hallmark of autosomal dominant optic atrophy (DOA) caused by pathogenic OPA1 mutations. The aim of this study was to conduct an in-depth psychophysical study of the visual losses in DOA and to infer any selective vulnerability of visual pathways subserved by different RGC subtypes. We recruited 25 patients carrying pathogenic OPA1 mutations and age-matched healthy individuals. Spatial contrast sensitivity functions (SCSFs) and chromatic contrast sensitivity were quantified, the latter using the Cambridge Colour Test. In 11 patients, long (L) and short (S) wavelength–sensitive cone temporal acuities were measured as a function of target illuminance, and L-cone temporal contrast sensitivity (TCSF) as a function of temporal frequency. Spatial contrast sensitivity functions were abnormal, with the loss of sensitivity increasing with spatial frequency. Further, the highest L-cone temporal acuity fell on average by 10 Hz and the TCSFs by 0.66 log10 unit. Chromatic thresholds along the protan, deutan, and tritan axes were 8, 9, and 14 times higher than normal, respectively, with losses increasing with age and S-cone temporal acuity showing the most significant age-related decline. Losses of midget parvocellular, parasol magnocellular, and bistratified koniocellular RGCs could account for the losses of high spatial frequency sensitivity and protan and deutan sensitivities, high temporal frequency sensitivity, and S-cone temporal and tritan sensitivities, respectively. The S-cone–related losses showed a significant deterioration with increasing patient age and could therefore prove useful biomarkers of disease progression in DOA.