遗传性视网膜疾病患者基因诊断中不容忽视的问题

Pay more attention to several issues in genetic diagnosis for patients with inherited retinal diseases

遗传性视网膜疾病(IRD)是一组具有高度遗传和临床异质性的单基因遗传性眼病,可通过基因检测明确临床诊断。近30年现代分子遗传学的迅速发展,大大提高了基因检测的检出率和准确性,给IRD患者带来了希望。但由于各种IRD临床表型之间的重叠,同一致病基因的变异可导致不同的临床表型,IRD患者基因诊断的复杂性仍然存在。针对这些不容忽视的问题,眼科医师应重视患者临床表型的全面评估,准确选择基因检测方法,合理判定致病基因和变异,从而指导患者下一步的治疗和遗传咨询。

Inherited retinal diseases(IRD)are a group of genetic disorders with high genetic and clinical heterogeneity.Patients with IRD may have their clinical diagnosis confirmed by genetic testing.Over the past 30 years,rapid advances in molecular genetics have raised the disease-causing gene variant detection rate and the accuracy of genetic testing,which provide hope to patients.The genetic diagnosis of patients with IRD is complicated due to the overlapping clinical phenotypes,and the fact that different variants lead to different phenotypes and severity even of the same gene.It is very important to overall evaluate the clinical phenotype of patients,precisely select genetic testing methods,and reasonably define disease-causing genes and variants during genetic diagnosis,which can guide the patient's subsequent treatment and provide genetic counseling.