Australian Inherited Retinal Disease Registry & DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia.
Centre for Ophthalmology and Visual Science, The University of Western Australia, Crawley, WA, Australia.
Adv Exp Med Biol. 2018;1074:265-271. doi: 10.1007/978-3-319-75402-4_32.
Leber congenital amaurosis (LCA) encompasses a group of severe inherited retinal dystrophies (IRDs) responsible for early childhood blindness. There are currently 25 genes implicated in the pathogenesis of these diseases, and identification of disease-causing variants will be required for personalised therapies. Whole exome and whole genome sequencing is informative for detecting novel disease-causing genes, whilst next-generation sequencing has excelled at detecting novel variants in known disease-causing genes.A global effort will be required to identify patient populations for early intervention. At the Australian Inherited Retinal Disease Registry and DNA Bank, we seek to identify genetic variants in individuals with IRDs in the Australian population to identify potential candidates for clinical trials, to inform clinical management of patients including reproductive options and to expand existing knowledge of IRDs.Due to the diversity of genes implicated, personalised strategies are likely to be the benchmark for treating these diseases, and a combined approach of different therapies may be optimal in treating some of these diseases.
Leber 先天性黑蒙（LCA）是一组严重的遗传性视网膜疾病（IRDs），可导致儿童早期失明。目前有 25 个基因与这些疾病的发病机制有关，需要确定致病变异才能进行个体化治疗。全外显子组和全基因组测序有助于发现新的致病基因，而新一代测序则擅长检测已知致病基因中的新变异。需要全球努力来确定早期干预的患者人群。在澳大利亚遗传性视网膜疾病登记处和 DNA 银行，我们试图在澳大利亚人群中识别 IRD 个体中的遗传变异，以确定临床试验的潜在候选者，为患者的临床管理提供信息，包括生殖选择，并扩大对 IRD 的现有认识。由于涉及的基因多样性，个性化策略可能是治疗这些疾病的基准，而联合使用不同的疗法可能是治疗其中一些疾病的最佳选择。
