Bartholomew Alex J, Lad Eleonora M, Cao Dingcai, Bach Michael, Cirulli Elizabeth T
Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, North Carolina 27708, United States of America.
Department of Ophthalmology, Duke University, Durham, North Carolina 27710, United States of America.
PLoS One. 2016 Feb 17;11(2):e0148192. doi: 10.1371/journal.pone.0148192. eCollection 2016.
Despite the large amount of variation found in the night (scotopic) vision capabilities of healthy volunteers, little effort has been made to characterize this variation and factors, genetic and non-genetic, that influence it. In the largest population of healthy observers measured for scotopic visual acuity (VA) and contrast sensitivity (CS) to date, we quantified the effect of a range of variables on visual performance. We found that young volunteers with excellent photopic vision exhibit great variation in their scotopic VA and CS, and this variation is reliable from one testing session to the next. We additionally identified that factors such as Circadian preference, iris color, astigmatism, depression, sex and education have no significant impact on scotopic visual function. We confirmed previous work showing that the amount of time spent on the vision test influences performance and that laser eye surgery results in worse scotopic vision. We also showed a significant effect of intelligence and photopic visual performance on scotopic VA and CS, but all of these variables collectively explain <30% of the variation in scotopic vision. The wide variation seen in young healthy volunteers with excellent photopic vision, the high test-retest agreement, and the vast majority of the variation in scotopic vision remaining unexplained by obvious non-genetic factors suggests a strong genetic component. Our preliminary genome-wide association study (GWAS) of 106 participants ruled out any common genetic variants of very large effect and paves the way for future, larger genetic studies of scotopic vision.
尽管健康志愿者的夜间(暗视)视觉能力存在大量差异,但在表征这种差异以及影响它的遗传和非遗传因素方面所做的工作很少。在迄今为止测量暗视视力(VA)和对比敏感度(CS)的最大规模健康观察者群体中,我们量化了一系列变量对视觉表现的影响。我们发现,具有出色明视视觉的年轻志愿者在暗视VA和CS方面表现出很大差异,并且这种差异在不同测试环节之间是可靠的。我们还确定,诸如昼夜偏好、虹膜颜色、散光、抑郁、性别和教育程度等因素对暗视视觉功能没有显著影响。我们证实了先前的研究结果,即花在视力测试上的时间会影响表现,并且激光眼科手术会导致更差的暗视视力。我们还表明,智力和明视视觉表现对暗视VA和CS有显著影响,但所有这些变量共同解释的暗视视觉差异不到30%。在具有出色明视视觉的年轻健康志愿者中观察到的广泛差异、高重测一致性,以及暗视视觉的绝大多数差异仍无法由明显的非遗传因素解释,这表明存在强大的遗传成分。我们对106名参与者进行的初步全基因组关联研究(GWAS)排除了任何具有非常大效应的常见遗传变异,为未来更大规模的暗视视觉遗传研究铺平了道路。