2021年，研究人员首次证明光遗传学疗法能够部分恢复一名失明患者的视力。
rapy was first shown to partly restore vision in a single blind person in 2021.
基于诺贝尔奖获奖科学成果的光遗传学疗法，利用光来激活或抑制神经细胞。研究人员指出，这种基于诺贝尔奖获奖科学成果的一种基因疗法是安全的，并且能够部分恢复失明者的视力。
Optogenetic therapy, based on Nobel prize-winning science, involves turning nerve cells on and off using light A type of gene therapy based on Nobel prize-winning science is safe and can partly restore sight in blind people, researchers have revealed.
这种被称为光遗传学疗法的方法，正是利用光来激活或抑制神经细胞的技术，该技术曾于2026年荣获诺贝尔生理学或医学奖。
The approach, known as optogenetic therapy, harnesses the technique for turning nerve cells on and off using light that scooped the 2026 Nobel prize in physiology or medicine.
2021年，这项疗法首次被证实能够部分恢复一名失明患者的视力。如今，研究人员公布了更大规模试验的结果，试验对象包括最初的那名患者以及另外九人。
It was first shown to partly restore vision in a single blind person in 2021 Now researchers have reported the results from a larger trial involving the original patient and a further nine people.
“我们可以确定的是，光遗传学的概念在视力恢复方面是可行的，”巴塞尔分子与临床眼科研究所所长、该研究的主要作者之一博通德·罗斯卡教授表示。
“What we can say for sure is that the concept of optogenetics is valid for vision restoration,” said Prof Botond Roska, director of the Institute of Molecular and Clinical Ophthalmology Basel and a lead author of the study.
罗斯卡补充说，目前的目标是致力于恢复高分辨率视力，并希望能在五到十年内实现这一目标。
Roska added the aim is now to work towards restoring high-resolution vision, with the hope of achieving the goal in five to 10 years.
试验的10名参与者均患有晚期色素性视网膜炎——这是一类遗传性疾病，据信全球有超过150万人受其影响。
All 10 of the trial participants had advanced retinitis pigmentosa – a group of genetic disorders thought to affect more than 1.5 million people worldwide.
在这些疾病中，视网膜中的光敏细胞会逐渐丧失功能。然而，视网膜中负责将视觉信息传递到大脑的神经节细胞，其退化速度相对较慢。
In these disorders, light-sensitive cells in the retina gradually lose their function. However, ganglion cells in the retina, which send visual information to the brain, deteriorate less quickly.
“这些细胞并非该疾病主要攻击的细胞，因此它们是这种疗法的理想候选者，”美国匹兹堡大学医学中心的另一位主要作者何塞-阿兰·萨赫尔博士表示。
“These cells are not the primary cells targeted by the disease, so that’s why they are good candidates for the therapy,” said Dr José-Alain Sahel, another lead author of the study from the University of Pittsburgh Medical Center in the US.
这种基因疗法仅需向眼睛内注射一次。注射物包含一种无害的合成病毒，可将产生光敏蛋白的遗传指令送入存活的神经节细胞环中。由此，这些细胞便具备了光敏性。
The gene therapy involves giving a single injection into the eye. This injection contains a harmless, synthethic virus that delivers the genetic instructions for producing a light-sensitive protein into a ring of surviving ganglion cells. As a result, these cells are made light-sensitive.
随后，每位患者都会获得一副光刺激护目镜。这些护目镜能够捕捉患者周围世界的图像，并将其转化为单一波长的光脉冲。这些光脉冲会激活经过处理而变得对光敏感的神经节细胞，使佩戴者能够感知到一幅单色图像。关键在于，该技术并不依赖于患者视力丧失的确切遗传原因。
Each patient then receives a pair of light-stimulating goggles. These capture images of the world around the patient and convert them into pulses of light of a single wavelength These pulses activate the ganglion cells that have been made light-sensitive, allowing the wearer to perceive a monochrome image. Crucially, the technique does not depend on the exact genetic cause of the patient’s sight loss.
在《新英格兰医学杂志》上，研究人员报告称，对于他们治疗的每位患者，仅对视力最差的眼睛进行了干预，并随后对这些参与者的治疗结果进行了长达五年的追踪。
New England Journal of Medicine the researchers report how for each patient they treated only the eye with the worst vision, adding participants’ outcomes were then followed for up to five years.
仅出现一例严重的眼部副作用，但这一问题在几分钟内便得到了解决，而身体其他部位并未出现与疗法相关的副作用。
Only one severe eye-related side-effect occurred, but this was resolved within minutes, while there were no side effects related to the therapy in the rest of the body.
然而，在10名参与者中，有6人在治疗后出现了具有临床意义的光敏感度改善。
However, six of the 10 participants had clinically meaningful improvements in light sensitivity after the treatment.
此外，一些参与者在接受基因治疗后佩戴光刺激护目镜时，在多项任务中表现出进步——例如检测、定位和触摸笔记本，找到门，以及沿直线行走。
What’s more, some of the participants showed improvements in a range of tasks when wearing the light-stimulating goggles after the gene therapy – such as detecting, locating and touching a notebook, locating a door and walking on a line.
研究团队补充说，使用护目镜进行训练时间更长的参与者，在这些任务中的表现往往更好。不过，这项研究也存在局限性。
The team added that participants who spent more time training with the goggles tended to do better on the tasks. However, the study has limitations.
“[患者]能够识别物体，但目前还无法识别人脸，”Roska表示。研究团队指出，这是因为经过处理的神经节细胞以环状结构分布在视网膜中央凹周围——而中央凹是负责清晰中心视觉的视网膜小凹。
“[Patients] can detect objects, but they cannot yet detect faces,” said Roska. That, the team say, is down to the treated ganglion cells being in a ring-like arrangement around the fovea – the tiny pit in the retina responsible for sharp central vision.
牛津大学视觉神经科学教授Mark Hankins并未参与这项研究，但他对这一成果表示欢迎，并指出该研究为这种疗法的安全性及其在仍有部分残余视力的患者中的应用提供了有力保障。
Mark Hankins, professor of Visual Neuroscience at the University of Oxford, who was not involved in the work, welcomed the study, noting it provides reassurance on the safety of the approach and its application to people who still have some residual vision.
“我们的治疗对象已从一名患者增加到十名，他们的光敏感性有所改善……我们还发现，能够为他们稳定地恢复部分视觉功能和光敏感性，这种效果在这些患者身上可以持续四到五年，”他说。“这只是初步的进展，但至关重要。”
“We’ve gone from one patient to 10 patients, we’ve seen improvement in their light sensitivity … and we’ve seen that we can give a stable restoration of some visual function, some light sensitivity, that lasts for four or five years in these patients,” he said. “They’re baby steps, but they’re critical.”