Mühlfriedel R, Sothilingam V, Tanimoto N, Seeliger M W
Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde, Eberhard-Karls-Universität Tübingen.
Klin Monbl Augenheilkd. 2017 Mar;234(3):320-328. doi: 10.1055/s-0043-101817. Epub 2017 Mar 29.
Characteristics of inherited retinal dystrophies include deficiencies in light perception and nervous conduction within the retina, leading to reduced vision or even blindness. In this context, the loss of function of photoreceptor-specific genes causes a variety of clinically and aetiologically distinct syndromes - each of them belonging to the group of rare diseases. With a prevalence of 1 in 2500, however, inherited retinal diseases are clinically significant and important - especially since these diseases lead to restrictions of a patient's fitness for work and overall quality of life. More than 250 genetic mutations causing the various types of inherited retinal dystrophies have been identified by now (https://sph.uth.tmc.edu/Retnet). In recent years, preclinical research on suitable animal models has yielded important progress in the understanding of the mutations underlying the pathological and molecular biological processes of these diseases. These findings have led to the development of novel and innovative therapeutic strategies for the treatment of inherited retinal dysfunctions, which are still incurable. Meanwhile, many of the successful preclinical studies have led to translational research projects aiming to find treatment options for human patients. However, some preliminary results of these human translational studies indicate the need to optimise and refine the underlying therapeutic concepts.
遗传性视网膜营养不良的特征包括视网膜内光感知和神经传导功能缺陷，导致视力下降甚至失明。在这种情况下，光感受器特异性基因功能丧失会导致多种临床和病因学上不同的综合征——它们都属于罕见病范畴。然而，遗传性视网膜疾病的患病率为两千五百分之一，在临床上具有重要意义，尤其是因为这些疾病会导致患者工作能力和整体生活质量受限。到目前为止，已经确定了250多种导致各种类型遗传性视网膜营养不良的基因突变（https://sph.uth.tmc.edu/Retnet）。近年来，对合适动物模型的临床前研究在理解这些疾病病理和分子生物学过程背后的突变方面取得了重要进展。这些发现促使人们开发出新颖且创新的治疗策略来治疗遗传性视网膜功能障碍，而这些疾病目前仍无法治愈。与此同时，许多成功的临床前研究已促成转化研究项目，旨在为人类患者寻找治疗方案。然而，这些人类转化研究的一些初步结果表明，需要优化和完善潜在的治疗理念。
