过去30年来，基因疗法给多种遗传性和获得性视网膜疾病患者带来了很大希望。在大量临床前研究的基础上，全球已进行了60多项视网膜疾病基因疗法的各期临床试验，且Luxturna，一种用于由RPE65突变导致的2型Leber先天性黑朦(LCA2)的基因治疗产品已批准用于临床。目前的基因传递系统虽然在临床研究中取得了一些成功，但为保证安全性和有效性，仍然需要在载体和眼内给药方式上加以改进和变通。新的腺相关病毒载体技术的发展使大基因传递和小创伤载体注射方式的研究都有所进展。规律间隔成簇短回文重复序列(CRISPR)技术也丰富了基因疗法的手段，必将在视网膜疾病的治疗中得到广泛应用。虽然基因疗法仍面临许多挑战，但预计在未来若干年中，它将成为目前许多不可治性视网膜疾病的临床治疗选择。
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Millions of people worldwide suffer from retinal diseases that cause severe visual loss or blindness. Over the past three decades, gene therapy has been developed as a powerful treatment modality for these diseases, with over 60 clinical protocols having been or currently being conducted in patients (www.clinicaltrials.gov) and many more in the preclinical stage. A majority of these protocols are developed against inherited retinal dystrophies (IRDs) in which the corresponding disease-causing genes have been identified. Notably, Luxturna, an adeno-associated viral (AAV) vector carrying the expression cassette of theRPE65 gene for the treatment of type 2 Leber congenital amaurosis (LCA2), has been approved by the Food and Drug Administration (FDA) of the U.S. as the first gene therapy product for retinal diseases[1]. In addition, gene therapy protocols against multifactorial retinal diseases, such as age-related macular degeneration (AMD) and diabetic retinopathy (DR) have also been tested clinically or in disease models. In this editorial, I will briefly summarize the recent progress in this area and introduce a few new technologies that can be applied in the treatment development for retinal diseases.
