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Abstract：
Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology remains unknown in the majority. The identification of disease-causing gene variant(s) allows a better understanding of the disorder and its inheritance. There is now an approved retinal gene therapy for autosomal recessive RPE65-retinopathy, and numerous ocular gene/mutation-targeted clinical trials underway, highlighting the importance of establishing a genetic diagnosis so patients can fully access the latest research developments and treatment options. In this review, we will provide a practical guide to managing patients with these conditions including an overview of inheritance patterns, required pre- and post-test genetic counselling, different types of cytogenetic and genetic testing available, with a focus on next generation sequencing using targeted gene panels, whole exome and genome sequencing. We will expand on the pros and cons of each modality, variant interpretation and options for family planning for the patient and their family. With the advent of genomic medicine, genetic screening will soon become mainstream within all ophthalmology subspecialties for prevention of disease and provision of precision therapeutics.
摘要：
遗传性眼病影响全球约1000人中的1人，大多数人的分子病因仍然未知。致病基因变体的鉴定允许更好地理解疾病及其遗传。现在已经批准了一种用于常染色体隐性遗传性RPE65视网膜病变的视网膜基因疗法，以及许多针对眼部基因/突变的临床试验正在进行中，强调建立基因诊断的重要性，以便患者能够充分获得最新的研究进展和治疗方案。在这次审查中,我们将提供管理这些疾病患者的实用指南，包括遗传模式的概述，需要测试前和测试后的遗传咨询，不同类型的细胞遗传学和基因检测，专注于使用靶向基因面板的下一代测序，整个外显子组和基因组测序。我们将扩展每种模式的利弊，患者及其家人计划生育的变体解释和选择。随着基因组医学的出现，基因筛查将很快成为所有眼科亚专业的主流，以预防疾病和提供精准治疗。
