Inherited retinal diseases – a disparate group of eye disorders with over 200 known genetic causes – are now the leading cause of blindness in working-age adults in developed countries. Until recently there was no cure for genetic eye diseases. After over a century of defining inherited retinal diseases with their phenotypes, and then several decades of discovering associated genes and their mutations, we now have gene therapy, stem cell therapy, predictive DNA testing and a revolution in adaptive computer technology. With the explosion of expensive treatment options, we need to consider whether finite resources should go towards treatment, prevention or rehabilitation or an amalgamation of all three. In addition, although evidence-based medicine is the goal, how do we direct our desperate patients towards genuine clinical trials and away from quackery? How do we provide scientifically valid treatments for eye diseases too rare to run proper trials and then capture the results of “off label treatments”?

遗传性视网膜疾病-一种具有200多种已知遗传原因的全群眼疾-现在是发达国家工作年龄成年人失明的主要原因。直到最近，还没有治愈遗传性眼病的方法。经过一个多世纪以来用表型定义遗传性视网膜疾病，然后数十年发现相关基因及其突变，我们现在有了基因疗法，干细胞疗法，预测性DNA测试和自适应计算机技术的一场革命。随着昂贵治疗方案的激增，我们需要考虑是否应将有限的资源用于治疗，预防或康复，或将这三者合并。此外，尽管循证医学是目标，我们如何指导绝望的患者进行真正的临床试验，而不要进行惊险手术？我们如何为眼科疾病提供科学有效的治疗方法，这种治疗方法太罕见了，无法进行适当的试验，然后获得“非常规治疗”的结果？