Successful treatment of early-onset sever retinal degeneration (EOSRD) in an animal model of the disease has provided the first proof-o-principle for retinal gene therapy of higher mammals. Currently, large sets of DNA samples are screened to identify patients with Leber's congenital amaurosis (LCA) carrying mutations in RPE65 as possible candidates for gene therapy trials. Research into EOSRD and LCA aims to identify the function of proteins involved or phenotypic changes upon mutation. These data will be used to describe the disease phenotype and identify parameters that can predict the outcome of gene therapy trials.

中文翻译：

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早期严重视网膜变性的最新进展：不仅仅是基础研究。

在该疾病的动物模型中成功治疗早发性重度视网膜变性（EOSRD），已为高等哺乳动物的视网膜基因治疗提供了第一个证据。目前，已筛查大量DNA样品，以鉴定携带RPE65突变的Leber先天性黑病（LCA）患者可能是基因治疗试验的候选人。对EOSRD和LCA的研究旨在确定涉及蛋白质的功能或突变后的表型变化。这些数据将用于描述疾病表型并确定可预测基因治疗试验结果的参数。