Sorbonne Universités, UPMC Univ Paris 06, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.
CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France.
Adv Exp Med Biol. 2018;1074:499-509. doi: 10.1007/978-3-319-75402-4_62.
Retinal degenerative diseases are a major cause of untreatable blindness due to a loss of photoreceptors. Recent advances in genetics and gene therapy for inherited retinal dystrophies (IRDs) showed that therapeutic gene transfer holds a great promise for vision restoration in people with currently incurable blinding diseases. Due to the huge genetic heterogeneity of IRDs that represents a major obstacle for gene therapy development, alternative therapeutic approaches are needed. This review focuses on the rescue of cone function as a therapeutic option for maintaining central vision in rod-cone dystrophies. It highlights recent developments in better understanding the mechanisms of action of the trophic factor RdCVF and its potential as a sight-saving therapeutic strategy.
视网膜退行性疾病是造成不可治疗性失明的主要原因，其原因是光感受器的丧失。最近在遗传性视网膜营养不良（IRDs）的遗传学和基因治疗方面的进展表明，治疗性基因转移为目前无法治愈的致盲性疾病患者的视力恢复带来了巨大的希望。由于 IRDs 的遗传异质性巨大，这是基因治疗发展的主要障碍，因此需要替代的治疗方法。本综述重点介绍了作为挽救视锥细胞功能的治疗选择，以维持杆锥细胞营养不良患者的中心视力。它强调了最近在更好地理解神经营养因子 RdCVF 的作用机制及其作为一种挽救视力的治疗策略的潜力方面的进展。
