Genomic testing assesses many genes in one test. It is often used in the diagnosis of heterogeneous single gene disorders where pathogenic variation in one of many genes are known to cause similar phenotypes, or where a clinical diagnosis is difficult to reach. In the ophthalmic setting, genomic testing can be used to diagnose several groups of diseases, including inherited retinal dystrophies, paediatric cataract, glaucoma and anterior segment dysgenesis and other syndromic developmental disorders with eye involvement. The testing can encompass several modalities ranging from whole genome sequencing to exome sequencing or targeted gene panels. The advantages to the patient of receiving a molecular diagnosis include an end to the diagnostic odyssey, determination of prognosis and clarification of treatment, access to accurate genetic counselling, and confirming eligibility for clinical trials or genetic specific therapies. Genomic testing is a powerful addition to the diagnosis and management of inherited eye disease.

中文翻译：

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基因组检测在眼科诊所中的应用：综述

基因组测试在一项测试中评估多个基因。它通常用于异质单基因疾病的诊断，其中已知许多基因之一的致病变异会导致相似的表型，或者难以达到临床诊断。在眼科环境中，基因组检测可用于诊断几组疾病，包括遗传性视网膜营养不良、小儿白内障、青光眼和眼前节发育不全以及其他累及眼睛的综合征性发育障碍。测试可以包括多种方式，从全基因组测序到外显子组测序或靶向基因组。接受分子诊断对患者的好处包括结束诊断过程、确定预后和明确治疗、获得准确的遗传咨询、并确认临床试验或基因特异性疗法的资格。基因组检测是遗传性眼病诊断和管理的有力补充。