Abstract：
How will people who spent their visual lives with only rods respond to cone function restoration? Will they be able suddenly see the colors of the rainbow? CNGA3-achromatopsia is a congenital hereditary disease in which cone dysfunction leads patients to have rod photoreceptor-driven vision only in daylight,1,2,3,4 seeing the world in blurry shades of gray.5,6 We studied color perception in four CNGA3-achromatopsia patients following monocular retinal gene augmentation therapy.7,8,9 Following treatment, although some cortical changes were reported,3,4 patients did not report a dramatic change in their vision.3,9 However, in accordance with the fact that sensitivity of rods and cones is most different at long wavelengths, they consistently reported seeing red objects on dark backgrounds differently than they did before surgery.3 Because clinical color assessments failed to find any indication of color vision, we conducted a gamut of tailored tests to better define patients\' descriptions. We evaluated patients\' perceived lightness of different colors, color detection, and saliency, comparing their treated with their untreated eyes. Although the perceived lightness of different colors was generally similar between the eyes and matched a rod-input model, patients could detect a colored stimulus only in their treated eyes. In a search task, long response times, which were further extended with array size, suggested low saliency. We suggest that treated CNGA3-achromatopsia patients can perceive a stimulus\'s color attribute, although in a manner that is different and very limited compared with sighted individuals. We discuss the retinal and cortical obstacles that might explain this perceptual gap.
摘要：
只用视杆度过视觉生活的人将如何应对视锥功能恢复？他们能突然看到彩虹的颜色吗？CNGA3-全色盲是一种先天性遗传性疾病，视锥功能障碍导致患者仅在日光下具有视杆光感受器驱动的视力，1,2,3,4在模糊的灰色阴影中看到世界。5,6我们研究了单眼视网膜基因增强治疗后四名CNGA3-色盲患者的颜色感知。7,8,9治疗后，尽管报道了一些皮质变化，3,4名患者没有报告他们的视力发生了戏剧性的变化。3,9然而，根据杆和锥体在长波长下的灵敏度差异最大的事实，他们一直报告在深色背景上看到红色物体与手术前不同。3因为临床颜色评估未能发现任何色觉迹象，我们进行了一系列量身定制的测试，以更好地定义患者的描述。我们评估了患者对不同颜色的感知亮度，颜色检测，和显著性，比较他们的治疗和他们的未治疗的眼睛。尽管不同颜色的感知亮度在眼睛之间通常相似，并且与杆输入模型相匹配，患者只能在接受治疗的眼睛中检测到有色刺激。在搜索任务中，响应时间长,它们进一步扩展了数组大小，建议低显著性。我们建议接受治疗的CNGA3色盲患者可以感知刺激的颜色属性，尽管与有远见的人相比是不同且非常有限的。我们讨论了可能解释这种感知差距的视网膜和皮质障碍。
