正确解读遗传性视神经病变基因检测结果

Correctly interpret the genetic testing results of inherited optic neuropathy

遗传性视神经病变是一种罕见的、具有多种遗传方式的视神经功能障碍类眼病,临床表现可为孤立的视神经萎缩也可合并全身多系统表现。对遗传性视神经病变患者及其家庭成员进行基因检测十分必要,有助于临床可疑病例的确诊、进行遗传咨询和指导治疗。但是目前临床医师对于如何解读基因检测结果相对不熟悉,存在一些误区。本文将阐述遗传性视神经病变的致病基因遗传特征,讲述基因检测结果解读要点。希望能让眼科医师更加熟悉这一相对罕见的领域,从而充分发挥基因检测的应用价值。

Inherited optic neuropathy(ION),which can be characterized by isolated optic atrophy or together with systemic manifestations,is a rare optic nerve dysfunction with multiple genetic patterns.Genetic testing plays the key roles in the diagnosis,genetic counseling and treatment of ION.Currently,most ophthalmologists are unfamiliar with how to interpret the genetic testing results correctly.This article describes the genetic characteristics of ION and explains the main points on genetic reports interpretation to help ophthalmologists getting familiar with this relatively rare field and to promote the clinical application of gene testing.(Chin J Ophthalmol,2021,57:326-330)